Endocrine Abstracts

In the human adrenal gland, serotonin (5-HT), released by subcapsular mast cells strongly stimulates aldosterone production via activation of the type 4 serotonin receptor (5-HT4R). Consistently, plasma aldosterone levels increase after administration of 5-HT4R agonists like cisapride to healthy volunteers. Previous studies performed in aldosterone producing adenomas (APA) have shown an increase in mast cells density and an overexpression of HTR4 gene, encoding 5-HT4R...

Background: The differences in cardiac parameters such as myocardial mass, left ventricular ejection fraction (LVEF), cardiac output, and brain natriuretic peptide (NT-proBNP) levels between cisgender men and women are well-established. However, no evidence exists regarding changes in myocardial mass or cardiac function parameters in transgender individuals undergoing gender-affirming hormone therapy (GAHT).Patients and method: A prospective study enroll...

Introduction: Carotid intima-media thickness (CIMT) is a simple and non-invasive method used to detect atherosclerosis. This measure could predict future cardiovascular events. Some studies have showed an increased cardiovascular in non functional adrenal incidentalomas (NFAI). The aim of this case control study was to determine the relationship between NFAI and CIMT.Methods: This case control study included 40 NFAI patients (16 men, 24 women, mean age 5...

Introduction: Pheochromocytoma is a rare cause of hypertension in pregnancy. Its prevalence ranges from 0.2% to 0.002% of cases of hypertension in pregnancy. Early diagnosis and appropriate management can reduce mortality and morbidity. Were report a case of pheochromocytoma diagnosed during pregnancy.Observation: 34-year-old diabetic patient, 29 weeks pregnant. Admitted for hypertensive peaks up to 170 mmHg of systolic, initially mistaken for pre-eclamp...

Background: Mutations in the ACTH receptor (MC2R) gene or in its melanocortin accessory protein (MRAP) gene disrupt receptor expression, signaling, and constitutive activity of the MC2R, leading to familial glucocorticoid deficiency (FGD) type 1 and type 2 respectively. FGD is a life-threatening, rare autosomal recessive disorder characterized by impaired cortisol synthesis and classically preserved mineralocorticoid production. There have also been described other mutations t...

Background: Primary aldosteronism (PA) is mainly caused by unilateral (unilateral PA) or bilateral aldosterone-producing lesions of adrenals (bilateral PA). Accumulating findings suggest distinct metabolic profiles between patients with unilateral and bilateral PA. However, the link between the metabolic features and histopathologic findings of adrenals from patients with PA remains largely unknown.Objective: To characterize metabolic profiles with a foc...

Introduction: There is an increased number of referrals to endocrinology for adrenal nodules found on imaging. This is due to increased use and advancement in imaging modalities. Adrenal nurse-led clinics are cost-effective and safe. We established an adrenal nodule nurse-led clinic at Northwick Park Hospital in September 2022.Methods: Retrospective data collection and analysis of patients reviewed at the clinic between September 2022-2023.<p class="...

Background: Adrenal masses are detected in 5-7% of adults. The European guidelines on managing adrenal incidentalomas published in 20161 have standardised the management of these patients. However, evidence of the guidelines’ impact on clinical care is still lacking.Methods: We conducted a retrospective, comprehensive review of clinical presentation, radiological characteristics, final diagnosis, and outcome of a large cohort of patients ...

Background: Non functional adrenal incidentalomas (NFAI) constitute the majority of adrenal tumors. This entity is a result of advances in imaging techniques and their prevalent use in clinical practice. Among the associated metabolic effects of NFAI, dyslipidemia emerges as a key factor, stimulating growing interest in understanding the link between these two entities.Methods: This case control study included 40 NFAI patients (16 men, 24 women, mean age...

Background: Limited information exists on postoperative hypocortisolism and hypothalamuspituitary-adrenal axis recovery in patients with adrenal incidentaloma following unilateral adrenalectomy. We evaluated frequency of postoperative hypocortisolism and predictors for recovery in non-aldosterone- producing adrenocortical adenoma patients after unilateral adrenalectomy.Methods: A retrospective analysis of 32 adrenal incidentaloma patients originally incl...

Introduction: Masses in adrenal topography have been diagnosed frequently due to more available access to radiological imaging. Adrenal incidentalomas occur around 5% to 7% of patients undergoing abdominal imaging mainly over 50 years of age. The HCFMUSP is a complex tertiary center, a national reference to adrenal disorders and since 2006 around 300 adrenalectomies were performed; 8% of them corresponded to undetermined masses in adrenal topography.Obje...

Background: A recent cross-sectional study showed that both comorbidities and mortality in patients with adrenal incidentaloma (AI) are tied to sex. However, only few longitudinal studies evaluating the development of arterial hypertension, hyperglycemia, dyslipidemia and bone impairment in patients with AI are available. The aim of this study is to analyze the impact of sex in the development of these comorbidities during long-term follow-up.Patients an...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired cortisol secretion and androgen excess. The mainstay of CAH treatment is glucocorticoid (GC) replacement, necessary to avoid adrenal crisis and manage androgen excess. The delicate balance between GC under/overtreatment is crucial to prevent metabolic and cardiovascular complications. Dual-release hydrocortisone (Plenadren®) is once-daily modified-release formulat...

Introduction: Tumor-derived material, particularly micro-RNAs, have been identified in the bloodstream and hold promise as molecular markers for diagnosing and monitoring adrenocortical incidentalomas (AIs).Purpose: We examined selected circulating microRNAs (miR-483-5p, miR-210, miR-335, miR-22-3p), identified from microRNA profiling studies, as markers of malignancy or cortisol hypersecretion in a cohort of patients with AIs and controls in a clinical ...

Background: Adrenal involvement in multiple endocrine neoplasia type 1 (MEN1) has been reported, its prevalence varying from 9 to 73%. The aim of this study was to characterize the adrenal phenotype and the prevalence and clinical significance of cortisol hypersecretion in a cohort of MEN1 patients.Methods: We retrospectively analyzed data of 36 adult patients with germline menin mutation (20 females; mean age 50&pm;17.4 years) in regular follow-up at ou...

Background: Adrenal endothelial tumors are mainly represented by adrenal cavernous hemangiomas (ACHs) and adrenal cystic lymphangiomas (ACLs). They are rare incidental findings, with about 160 cases of both ACHs and ACLS reported in the literature. They are usually unilateral, benign, non-functioning, and asymptomatic, although abdominal pain and life-threatening retroperitoneal hemorrhage may occur if tumor size increases. Radiological features often overlap with malignant ad...

Background: The Short Synacthen test (SST) is commonly used in clinical practice to evaluate adrenal function. Appropriate patient selection for SST is needed to ensure accurate interpretation of the results and to mitigate increased healthcare costs associated with unnecessary testing and inappropriate glucocorticoid (GC) steroid replacement. This study aimed to investigate the indications of inpatient SSTs over a one-year period, to determine the accuracy of testing.<p c...

Background: A few studies have shown that aldosterone has negative impact on metabolic parameters.Objectives: The aim of the study was to evaluate metabolic parameters in patients with primary aldosteronism (PA) before and one year after adrenalectomy.Methods: In this retrospective study, we examined 51 patients (median age 50 years, IQR 43–55; 55% male) who underwent adrenalectomy for PA between 2016 and 2022. Patients with d...

Background: The existing consensus for patients with primary aldosteronism (PA) after unilateral adrenalectomy recommends annual follow-up to rule out persistence or recurrence of the disease.Objectives: The aim of the study was to assess the remission rate in patients with PA ≥1 year after adrenalectomy.Methods: Of the 41 patients who underwent adrenalectomy for PA between 2016 and 2021, 24 had available follow-up data and w...

A reninoma is a tumour of the afferent arteriolar juxtaglomerular cells that secretes the enzyme renin, leading to hyperactivation of the renin-angiotensin-aldosterone system. It is a cause of pathological secondary hyperaldosteronism that results in severe hypertension and hypokalaemia. Fewer than 200 cases have been described, seven of which were associated with pregnancy. We present the case of a 29-year-old woman referred with hypertension and hypokalaemia at 10 weeks&#146...

Introduction: Currently, it is unclear whether plasma free or 24-hour urinary metanephrines are preferable for diagnosis of pheochromocytoma/paraganglioma (PPGL) in children.Objectives: To investigate whether measurements of plasma free or 24-hour urinary fractionated metanephrines is a reliable test for screening for PPGL in children.Methods: This retrospective study included data from 60 children with and 78 without PPGL. Data in...

Introduction: Adrenocortical carcinoma (ACC) is a rare tumor known for its diverse biological behaviour and generally poor prognosis. Recently, the S-GRAS scoring system has emerged as an accurate prognostic model, incorporating the most frequently used clinicopathological parameters: ENSAT stage, grade, resection status, age at diagnosis, and tumor symptoms. So far, this system’s efficacy has only been validated in extensive multicenter studies, proposing it as a reliabl...

Introduction: Neuropsychiatric disorders are common and well-studied in patients with overt hypercortisolism. However, data regarding patients with adrenal incidentalomas (AIs) are limited. The aim of our study is to assess the psychometric and quality of life status in individuals with benign adrenal tumours.Methods: Eighty-two patients diagnosed with AIs, encompassing 53 females and 29 males, with a total mean age of 64 years and 52controls (without AI...

The adrenal cortex, a pivotal endocrine regulator governing body homeostasis, metabolism, and stress response through steroid hormone synthesis, presents formidable challenges for effective replacement in disorders like adrenal insufficiency and congenital adrenal hyperplasia. The limitations of current hormone replacement strategies stem from the intricate dynamics of hormonal release. This study harnesses insights derived from the analysis of a recently published single-cell...

Background: Human chronotypes can be defined as the natural preference for specific wake and sleep times, as measured by the start and end of sleep on days without temporal restrictions. They are a consequence of the circadian clock individual periods. Cortisol is a key mediator for the rhythmic expression of circadian signals in almost all tissues. Physiological timing of cortisol levels is strictly regulated by the hypothalamic-pituitary-adrenal (HPA) axis. Diseases affectin...

Introduction and Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare disease caused by a mutation in the ABCD1 gene (Xq28). It is characterized by the absence of very long-chain fatty acids (VLCFAs) degradation, leading to their accumulation primarily in the central and peripheral nervous system, adrenal cortex, and gonads. It presents a variable clinical spectrum and prognosis. The aim of our study is to describe the characteristics of all X-ALD patients under follow-u...

Background: The water deprivation test serves as a key diagnostic test to differentiate between Arginine Vasopressin Deficiency (AVP-D), Arginine Vasopressin Resistance (AVP-R), and Psychogenic Polydipsia (PP) in patients presenting with symptoms of polydipsia and polyuria, when common causes such as diabetes mellitus have been excluded. This study evaluated the established diagnostic values for serum osmolality, serum sodium, and urine osmolality.Method...

Introduction: Hyperparathyroidism is a common medical condition, but in 5-10% of cases, it is part of Jaw Tumor syndrome, an autosomal dominant syndrome linked to a mutation in the HRPT2 gene. This syndrome is characterized by the presence of mandibular brown tumors and primary hyperparathyroidism.Case report: A 24-year-old patient with a history of severe chronic renal failure in the left single kidney, presenting ureterohydronephrosis, underwent mandib...

Introduction: The non-Hodgkin lymphomas (NHL) involve extralymphatic sites more often than does Hodgkin lymphoma; consequently, tumor involvement of almost every abdominal organ has been recorded. Adrenal involvement in patients with NHL may be present at the time of initial assessment. however, adrenal insufficiency as a consequence of adrenal invasion is rare. We report a case of a patient diagnosed with NHL with breast and bilateral adrenal involvement.<p class="abstext...

Introduction: Antiphospholipid syndrome (APS) is a systemic autoimmune disorder known for recurrent arterial and venous thrombotic events. It may involve multiple organ systems, but its impact on the endocrine system is rare. However, the adrenal glands are one of the most susceptible endocrine organs to APS, due to thrombosis, leading to primary adrenal insufficiency (PAI). Most cases are diagnosed in patients with known history of APS.Case Report: We r...

Introduction: Adrenal insufficiency (AI) can pose a life-threatening risk in case of acute decompensation. The absence of specific signs of acute adrenal insufficiency (AAI) and lack of awareness about this medical emergency may lead to diagnostic and therapeutic delays, jeopardizing the patient’s prognosis. Hence, the importance of well-conducted therapeutic education for adrenal-insufficient patients. The objective of this study is to assess the level of knowledge among...

Introduction: Primary hyperaldosteronism (PA) is the autonomous production of aldosterone by a disease primarily affecting the glomerular zone of the adrenal gland. It is one of the most frequent causes of secondary hypertension. The diagnosis should be suspected in the presence of the classic clinico-biological triad in patients presenting with hypertension, low plasma renin activity (PRA), with or without hypokalemia.Patients and Methods: Retrospective...

Introduction: Primary aldosteronism (PA) is commonly identified as the main cause of secondary hypertension. It is becoming increasingly wide-spread, affecting between 1 and 30% of people suffering from hypertension. We aim to describe the epidemiological, clinical and paraclinical characteristics of PA and to analyse its therapeutic and evolutionary aspects.Patients and methods: Retrospective and descriptive study concerning 40 patients with PA, collect...

Introduction: Non-functioning adrenal incidentaloma (NFAI) is a frequently diagnosed since the increased use of radiological examinations. The recent studies have shown that NFAI might have negative cardiometabolic effects and increased cardiovascular risk. The aim of this case control study was to determine the relationship between NFAI, CRP-hs, uric acid and cardiovascular risk (CVR) based on GLOBORISK algorithm of Tunisia.Methods: This case-control st...

Patients with adrenal insufficiency show higher mortality than in the general population, mainly due to non-physiological daily glucocorticoid overexposure and to inadequate cortisol exposure during stress-related events and illness. The aim of the current study is to compare the impact of 10 years of conventional glucocorticoid (GC) replacement treatment and dual-release hydrocortisone (DR-HC), on anthropometric, metabolic, cardiovascular and bone outcomes in treatment-na&#23...

Introduction: Adrenal crisis (AC) is the most severe manifestation of adrenal insufficiency, still responsible for a high mortality of affected patients, especially with primary adrenal insufficiency (PAI). Its presentation is insidious, leading to a delayed diagnosis and treatment. Patient education is crucial in the prevention and self-management of AC.Aim of the study: We want to evaluate the incidence, features (symptoms, signs, laboratory findings),...

Background: Chronic hypercortisolism is known to alter the circadian rhythm and to impair protein metabolism. Altered amino acid (AA) and biogenic amine (BA) levels were found in basal blood in patients with hypercortisolism. However, poor information is available on the physiologic circadian fluctuation of these molecules. Furthermore, the potential derangement caused by hypercortisolism was never investigated.Aim: To characterize diurnal levels and flu...

Background: Radiomics, or texture analysis, is gaining growing interest for its high prediction performances, mainly for clinical purposes. Radiomics application for pheochromocytoma immunohistochemistry (IHC) and molecular biology prediction is still unexplored.Aim: To evaluate radiomics ability to predict pheochromocytoma IHC.Methods: We retrospectively enrolled 38 pheochromocytoma who underwent surgery at Sant’Orsola-Malpig...

Adrenocortical carcinomas (ACC) overexpress the insulin-like growth factor 2 (IGF2) that drives a proliferative autocrine loop by binding both IGF1R and isoform A of insulin receptor (IRA). However, the contribution of these receptors in mediating ACC cell growth has been poorly investigated. The aim of this study was to investigate IGF1R and IR expression and localisation in ACC and adrenocortical adenomas (ACA) samples, and to test their involvement in mediating IGF2 tumorig...

Background: It is known that excessive dietary sodium intake increases cardiovascular risks and contributes to elevated blood pressure. Additionally, a high-salt diet is linked to unfavorable inflammatory immune responses. Notably, individuals with primary aldosteronism (PA) commonly exhibit elevated sodium intake. Despite treatment with mineralocorticoid receptor antagonists (MRA), PA patients do not experience a complete reduction in excess cardiovascular risk compared to hy...

Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6. Approximately 11 point mutations are responsible for over 90% of cases, with good genotype-phenotype correlations. Depending on the residual 21-hydroxylase activity, three distinct phenotypes (classic salt wasting – SW, classic simple virilising – SV and non-classic - NC) with 4 corresponding...

Background: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The clinical spectrum in males with X-ALD ranges from isolated adrenal insufficiency (AI) and slowly progressive myelopathy to devastating cerebral demyelination. Gitelman syndrome (GS) is a rare autosomal recessive inherited tubular disease which is caused by mutation in the SLC12A3 gene. It is characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. We report the a...

Malignant pheochromocytomas (MP) are rare form of catecholamine-producing tumours that are usually associated with tachycardia, hypertension and diaphoresis. MP are typically diagnosed by symptoms, elevated catecholamine levels and characteristic radiological imagining. Metastases to the vertebrae are extremely rare and usually appear at late stage of the disease, sometimes years after the diagnosis. Backpain as a first manifestation of MP is unusual, especially with history o...

Immune-checkpoint inhibitors have been increasing used in the field of medical oncology for treatment of various early to late-stage malignancies, however, rare occurrences of adrenal insufficiency and thyroid dysfunction may occur. Pembrolizumab, a PD-1 inhibitor, has been associated with adrenal insufficiency in 1-2% of patients, while thyroid related adverse events occurred in 3.2-10.1%. This is a case report of an 81 year-old male, known to have a cutaneous melanoma stage ...

Introduction: Ectopic adrenal tissue (EAT) occurs in less than 1% of adults, more commonly in males. It may be found anywhere along the path of embryogenic migration, usually in the kidney and retroperitoneal fat. We report a case of EAT in the fallopian tube, a particularly rare localization.Case: We present a 57-year-old female with a known medical history of nephrolithiasis and previous ectopic pregnancies. The patient was submitted to a laparoscopic ...

A 38–year-old female was diagnosed with right breast cancer cT2mN0M0G3 with positive BRCA+ gene mutation. The patient was treated with neoadjuvant chemotherapy plus one dose immune checkpoint inhibitor Pembrolizumab following bilateral radical mastectomy, extirpation of the right sentinel lymph nodes and bilateral reconstruction with an implant. Approximately one month after using Pembrolizumab the patient noticed extreme fatigue, decreased blood pressure, accelerated pul...

Introduction: Adrenocortical carcinoma is a rare tumour, with an annual incidence of 1 to 2 case per million. Hypercortisolism constitutes the predominant clinical manifestation in patients with hormone excess, presenting in 50% to 80% of all adrenocortical carcinomas. Non-functioning tumors are even rarer, comprising only 20% of adrenal carcinomas in the largest reported series. Conversely, Addison’s disease is also an infrequent disorder, with estimated incidence rates ...

Introduction: POEMS syndrome is a rare multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma-proliferative disorder and skin changes. Different endocrinopathies are found in 58-80% of patients, however, its pathophysiology remains unknown. Hypogonadism (primary and secondary) is the most common endocrinopathy (79% of patients), with other abnormalities including hyperprolactinemia (56%), primary hypothyroidism (54%), abnormal glu...

Introduction/objective: Pheochromocytomas are increasingly diagnosed in incidentally detected adrenal masses, with the advent of modern imaging modalities and increased access to imaging. The proportion of pheochromocytomas in adrenal incidentalomas is relatively low, ranging from 7% to 25% of cases recently. Given the evolution of the presentation of pheochromocytomas, we sought to evaluate the proportion and clinical, biochemical and radiological characteristics of incidenta...

Introduction: Pheochromocytoma, a rare catecholamine-secreting tumor, typically presents with paroxystic hypertension, tachycardia, headache, and diaphoresis. Less frequently, symptoms imply substantial hemodynamic compromise and cardiogenic shock may occur. The delay time in diagnosis is approximately 3 years.Case Presentation: This is a 41-year-old woman with no relevant history or cardiovascular risk factors, who presented with stress-induced cardiomy...

Introduction: Pheochromocytomas are rare neuroendocrine tumors originating from chromaffin cells in the adrenal medulla, secreting catecholamines and causing symptoms such as hypertension, anxiety, panic attacks, palpitations, and headaches. An adrenal gland incidentaloma is identified as an unintentional discovery in approximately 3 - 4 % of computed tomography (CT) abdomens performed. Pheochromocytoma is diagnosed in about 5% of adrenal incidentalomas. Diagnosing pheochromoc...

Introduction: Endocrine hypertension is the most common cause of secondary hypertension affecting nearly 3% of the population. Adrenal etiologies play a significant role in these cases. An adrenal incidentaloma is an asymptomatic adrenal tumor, at least one cm in diameter, discovered incidentally during a medical imaging examination. It requires an investigation into its secretory or malignant nature leading to the development of arterial hypertension.Ma...

Introduction: MUTYH (MutY homolog Escherichia coli, homolog of MYH, hMYH) is a repair enzyme with a crucial role in the correction of DNA errors, being considered a protective factor of the cell. MUTYH mutations have been linked to MUTYH-associated polyposis syndrome (MAP), an autosomal recessive disorder characterized by multiple colorectal adenomas. Patients with MAP show a much higher lifetime risk of gastrointestinal cancers as an additional role of MUTYH, it appears to co...

Background: ACTH-independent Cushing’s syndrome (AICS) due to bilateral adrenal lesions (BAL) is a challenge as determining whether autonomous cortisol secretion is unilateral or bilateral is crucial in guiding the treatment strategy.Aim: To analyse the usefulness of adrenal venous sampling (AVS) in differentiating between unilateral and bilateral cortisol secretion in patients with AICS and BAL.Methods: We performed a retrosp...

Introduction: Carney Complex (CNC) is a rare syndrome characterized by multiple endocrine and non-endocrine tumors, which may be accompanied by macular pigmentation of the skin. This is an autosomal dominant disorder with high penetrance and heterogeneous expression. It is caused by inactivating pathogenic variants in the PRKAR1A gene in over 70% of cases which encodes the regulatory type 1 alpha subunit of protein kinase A. Diagnosis is made by identifying specific criteria. ...

Introduction: Pseudo Cushing syndrome (PCS) is caused by non-neoplastic over activity of the hypothalamic-pituitary-adrenal axis. Differentiating between PCS and Cushing disease (CD) can be challenging because of their overlapping clinical and biochemical features.Case presentation: 15 year old male presenting with watery diarrhea of 2 months duration occurring 3 times per day with lower limb weakness No rectal bleeding, fever, or weight loss<p class...

Introduction: 11-ketotestosterone (11KT) and 11β-hydroxyandrostenedione (11OHA4) are new biomarkers for hyperandrogenic disorders. Steroids can be measured in saliva, allowing non-invasive sampling by patients. We modified a published LC-MS/MS method1 for quantification of 11-oxygenated androgens in saliva with respect to sample volume, extraction procedure and equipment, and assessed the potential impact of different sampling devices on results.<p class="a...

Importance: It is unclear if non-functional adrenal tumors (NFAT) are associated with higher cancer incidence.Objective: To analyze the cancer incidence in patients with NFAT.Design, Settings and Participants: A national retrospective register-based study involving cases with NFAT diagnosed in Sweden 2005-2019 and controls was conducted. Both cases and controls were followed until death or 2020. Individuals with diagnosed adrenal h...

Life-long glucocorticoid (GC) treatment is needed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, to replace GC deficiency and to control androgens excess. Multiple daily immediate-release-hydrocortisone (IR-HC), characterized by GC overexposure, peaks and troughs, is frequently associated with a suboptimal androgen control, due to ACTH overnight increase. Once daily dual-release-HC (DR-HC), approved for adrenal insufficiency and, despit...

Introduction: Endogenous Cushing’s disease is a serious and rare endocrine disorder. Medical therapy is mostly used as second-line treatment after failed surgery or recurrence and comprises several pituitary-directed drugs, glucocorticoid receptor blocker and adrenal steroidogenesis inhibitors such as osilodrostat. We here describe a case of a Tunisian patient with uncured cushing’s disease who developed iatrogenic adrenal insufficiency in the setting of Osilodrostat...

Background: Distinction of benign testicular adrenal rest tumours (TART) and potentially malign Leydig cell tumors (LCT) is challenging but important to prevent unnecessary surgery of TART. Ultrasound or magnetic resonance imaging can reliably detect but not distinguish between both tumour entities.Methods: Functional imaging results using the specific CYP11B1/2-inhibitor 123I-IMAZA were investigated in seven adult male patients with classic c...

Introduction: Gynecomastia, marked by mammary gland hypertrophy, arises from an imbalance between androgens and estrogens. Notable etiologies include hypogonadism, tumors, iatrogenic causes, and idiopathic factors.A case report: A patient aged 8 years and 10 months, with no pathological history, was admitted for further management of right unilateral gynecomastia. The functional signs included unilateral right hypertrophy in the retroareolar region. On p...

Introduction: Cortisol level measurement is required in the diagnosis and management of adrenal, pituitary and hypothalamic pathologies.Aim: The aim of this study was to evaluate clinician’s practice in ordering cortisol test.Methods: A retrospective study concerning 63 cortisol requests data collected by the laboratory computer system (Health Lab) between January 2024 and February 2024. Only requests of 0800 hours plasma cort...

Background: BMAD is defined as development of multiple large nodules, >1 cm diameter, with bilateral involvement of the adrenal glands. It is typically associated with endogenous Cushing’s syndrome (CS) and occurs in adults, in the 4th-7th decade of life.Aim: To describe the clinical presentation, the biochemical peculiarities and the management of 71 patients diagnosed with BMAD in a tertiary endocrinology centre.Results:...

Introduction: The majority of adrenocortical incidentalomas (AIs) are nonfunctional adenomas. Some of them demonstrate an autonomous cortisol secretion (ACS), a pathologic condition defined as biochemical evidence of hypercortisolism without typical signs or symptoms of Cushing’s syndrome.Subjects and methods: In this cross-sectional study, we evaluated 152 consecutive patients, aged 58.3 years (range, 25-84 years) of whom 105 (69.1%) with unilatera...

Background: Ehlers–Danlos syndrome is a group of genetic conditions characterized by alterations in connective tissue structure, which produces various symptoms. Some subtypes of this syndrome are associated with structural alterations of tenascin-X, an extracellular matrix glycoprotein encoded by the TNXB gene, which partially overlaps the CYP21A2 gene, which encodes adrenal 21-hydroxylase. The purpose of this study was to assess the relationship between tenascin-X level...

Introduction: Pheochromocytomas-paragangliomas are rare neuroendocrine tumors that secrete catecholamines from chromaffin cells of the adrenal medulla, sympathetic or parasympathetic ganglia. Unrecognized pheochromocytomas are associated with high mortality, most often due to cardiovascular disorders.Objective of the study: The objective of our work is to study the clinical, biological, radiological and therapeutic characteristics of pheochromocytomas/pa...

Introduction: An adrenal incidentaloma is an adrenal mass lesion greater than 1 cm in diameter, which is incidentally discovered by radiological investigation. The prevalence of adrenal incidentalomas increases with age, increasing to around 3% at aged 50years and 10% in the elderly. The majority of these lesions are benign >80%. Adrenal incidentalomas fall into one of three categories: Non-functioning tumours: these lesions are benign e.g. adenomas, adrenal cysts, haemato...

Background: People with type 2diabetes (T2D) often referred as cardiovascular disease (CVD) risk equivalent. However, CVD risk in diabetes varies greatly and substantial proportion of people with T2D have low CVD risk as with the general healthy population. The latest European Society of Cardiology (ESC) guidelines 2023 endorsed the T2D-specific CVD risk score (SCORE2-Diabetes) for people with T2D. However, current prediction models are developed from non-Asian populations, an...

Introduction: Many studies have pointed to the importance of chronic inflammation and dyslipidemia in the development of atherosclerosis, but data related to the elderly population are still inconsistent. The aim of the work: To determine the importance of determination of markers of inflammation (C-reactive protein - CRP) and lipid status in elderly (≥65 years), functionally dependent persons.Methods: A prospective study that included 257 patients...

Patients with chronic sinusitis with polyps are prepared for surgery (FESS) in one of two ways: through intranasal steroid therapy or oral preparation. The high-dose oral glucocorticoids are not often used in Poland, because of the due to the risk of developing side effects including pituitary-adrenal axis inhibition with the need for steroid cover during surgery. The 30 patients before FESS were randomly divided into two equal-sized groups. Patients in the first group receive...

Introduction: The Gut-Brain Axis (GBA) is implicated in various conditions, including migraine, headache disorders, Irritable Bowel Syndrome (IBS), hypertension, and vascular dysregulation. While ophthalmic artery Doppler shows promise in conditions like migraine and stroke prevention [2], effective treatments targeting these mechanisms are still under exploration. Probiotic therapy, as a potential molecular and cellular modulator, may balance regulatory systems leading to pat...

Objective: Evaluate the prevalence of adrenal insufficiency (AI) in Southern Province of Seville that comprises around 400.000 people.Materials and methods: Retrospective descriptive study that includes patients diagnosed with primary (PAI) and secondary (SAI) adrenal insufficiency that are followed up at Virgen de Valme University Hospital.Results: Out of the 125 patients with AI, 51 patients (40,8%) had PAI and 74 patients had SA...

Introduction: Adrenal hyperplasia is found in more than 15% of abdominal imaging procedures in adults, unrelated to endocrine disorders, especially after the COVID era. Adrenal management is consequently recommended.Aim: To retrospectively evaluate the adrenal status in terms of morphological progression and functional impairment of adrenal function, in a cohort of cases admitted at least yearly in the National Institute of Endocrinology, Bucharest, Roma...

Pheochromocytomas are rare catecholamine-producing tumors that arise from chromaffin cells located in the adrenal medulla. They are usually benign, but approximately 10% of pheochromocytomas are malignant. The most common clinical features include Menard triad: headache, sweating and palpitations, and permanent or paroxysmal hypertension. Haematuria as a presenting feature of adrenal pheochromocytoma is rarely seen. We report a case of pheochromocytoma in a 61-year-old female ...

Introduction: Pheochromocytomas, rare neuroendocrine tumors originating from adrenal medulla chromaffin cells, excessively secrete catecholamines, manifesting diverse symptoms. With an incidence of 2-9 per million inhabitants, these tumors pose diagnostic challenges due to their varied clinical presentation.Case Description: We present five patients diagnosed with pheochromocytoma at the Clinical Hospital Center Osijek. The incidentaloma of the adrenal g...

Introduction: Pseudopheochromocytoma is a poorly comprehended entity believed to arise from an overstimulated sympathetic nervous system. Individuals with pseudopheochromocytoma seem to demonstrate heightened cardiovascular reactivity to catecholamines, along with an increased release of epinephrine from the adrenal glands in response to stimulation from the sympathetic nervous system. This clinical report presents an observation of pseudopheochromocytoma in a patient diagnose...

Introduction: Vitamin D deficiency is an emerging concern that has the potential to impact one’s health, even in sunny Mediterranean countries like Tunisia. This issue is particularly notable among indoor workers in the healthcare sector, who experience minimal sun exposure. The aim of this study was to describe the Vitamin D profile within this specific population and to establish its association with lipid parameters.Methods: This cross-sectional ...

Primary hyperaldosteronism represents a current and underdiagnosed cause of secondary hypertension, characterized by inordinate and independent aldosterone production. While adrenal venous sampling (AVS) has surfaced as the gold standard for lateralization of aldosterone excess, its operation in cases of grueling primary hyperaldosteronism remains less explored. In this unique case history, we present the clinical script of a case with suspected primary hyperaldosteronism, fla...

Introduction: Primary adrenal carcinoma is a very rare pathology, its treatment is fundamentally surgical and adjuvant treatment with mitotane can prevent recurrences. The prognosis varies depending on the patient, the stage and the histopathological diagnosis. We present the case mix of patients diagnosed with adrenal cortex carcinoma in our center between 2012-2022 and review the management of this pathology.Patients and Methods: Retrospective study on...

Introduction: This case series consist of three brothers who are aged 24, 27 and 28. The eldest brother was diagnosed with CAH at 18 days when he presented with poor weight gain, vomiting and persistent jaundice with hyponatraemia. The parents received genetic counselling for the next two pregnancies and all three children were managed with hydrocortisone and fludrocortisone maintainence therapy. They were closely monitored for their growth rates, signs of precocious puberty a...

Introduction: Adrenocortical carcinoma is a very rare tumor with a heterogenous prognosis.Case report: Patient R.B is a 58-year-old female patient with no particular familial history. She had a personal history of hypertension, discovered 6 months ago well controlled with beta blockers and amlodipine. Two weeks before her admission to the hospital, she reported having constantly worsening abdominal pain followed by frequent vomiting few days later. The p...

Introduction: Immune-checkpoint inhibitors (ICIs) have revolutionised cancer treatment, offering superior efficacy compared to traditional chemotherapy. The use of immune checkpoint inhibitors has been associated with the occurrence of multiple endocrine immune-related adverse events (irAEs), such as primary hypothyroidism, thyroiditis, primary adrenal insufficiency, type 1 diabetes mellitus, and hypophysitis. In certain instances, these irAEs may necessitate the discontinuati...

Introduction: Bilateral adrenal tumors in patients with adrenal Cushing’s syndrome (CS) are rare, lending to differential diagnosis which includes bilateral macronodular adrenal disease (BMAD), synchronous adrenal adenomas and even adrenocortical carcinoma. The treatment consists of unilateral adrenalectomy, followed by contralateral adrenalectomy, if warranted by persistent significant CS.Aim: To present a case highlighting unilateral adrenalectomy...

Background: Pericarditis as a presentation of sever adrenal insufficiency (AI) is very rarely documented. We would like to present a rarely case of sever AI whose first clinical presentation was pericarditis with heart failure and cardiac tamponade.Case presentation: A 35 years old man was hospitalized on Department of Internal Medicine for chest pain, shortness of breath and hypotension. On ECG was documented sinus tachycardia with diffuse ST elevation....

Introduction: Cushing’s syndrome (CS) is associated with a plethora of metabolic consequences. Current literature regarding the impact of different aetiologies on metabolic complications is scarce, and results are inconsistent. More studies are needed to validate previous findings.Aim and methods: In order to compare the outcomes of pituitary and adrenal CS, we conducted an observational retrospective study, investigating the medical records of 72 p...

Introduction: Cushing’s syndrome (CS) has relevant morbidity and mortality and poses several diagnostic challenges underlining the need for a prompt diagnosis in order to initiate earlier treatment. The aim of the present study was to develop a new clinical and biological score to predict the diagnosis of CS.Methods: This was a monocentric retrospective study including patients who were admitted to the Department of Endocrinology of La Rabta Hospita...

Introduction: Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency is a very rare form of CAH characterized by glucocorticoid deficiency, hypergonadotropic hypogonadism and hypertension with hypokalemia. It is an autosomal recessive disorder with an estimated incidence of one in 1,000,000 newborns. Over 100 mutations in the CYP17A1 gene have been identified with combined 17-hydroxylase/17,20-lyase deficiency, but in some authentic cases no mutation has b...

Introduction: Adrenal Insufficiency (AI) is a heterogeneous condition comprising primary, secondary and tertiary disease. Individuals with AI suffer more frequent infections and take longer to recover. Adrenal Crises (ACs), most commonly precipitated by infections, are an acute life-threatening complication with a reported mortality of 6%. ACs are, at least in part, potentially preventable and outcomes are improved by early initiation of high-dose glucocorticoids. Currently, t...

Background: It is well recognised that the most frequent cause of mineralocorticoid induced hypertension is primary hyperaldosteronism. Excess 11-deoxycorticosterone (11-DOC), which is a precursor molecule for the production of aldosterone, may in rare cases be the cause of the mineralocorticoid induced hypertension in patients with normal or low aldosterone levels.Case: We describe a 70 year old female patient with a background of treated breast cancer ...

Background: The diagnosis of adrenal incidentaloma (AI) is becoming more common with the rising use of radiological tests. Most of AI are nonfunctional adrenal incidentalomas (NFAI) that may produce small amounts of glucorcorticoids that, in consequence, may cause metabolic disorders. Metabolic syndrome being a significant health concern should be evaluated in patients with NFAI. The objective of the study was to assess metabolic syndrome (MS) prevalence and characteristics in...

Introduction: Individuals with glycogen storage disease type 1b (GSD1b) usually have low blood glucose and are at constant risk of hypoglycemia. We recently hospitalized a pregnant woman with GSD1b, where despite nutritional management, her glycemia values were almost unwaveringly towards the lower physiological limits. In a recent study (Rossi et al. Orphanet Journal of Rare Diseases 2020; 15: 99, https://doi.org/1...

Background: Adult beta-thalassemia patients experience various endocrine complications associated with iron deposition. However, data regarding adrenal insufficiency (AI) are limited.Subjects and Methods: A total of 104 beta-thalassemia patients examined between 2015 and 2024 in our outpatient clinic had at least one measurement of morning serum ACTH and cortisol levels. At the time of presentation, two male patients had already been diagnosed with prima...

Introduction: Adrenal insufficiency (AI) requires lifelong steroid replacement therapy, traditionally with hydrocortisone (HC), which, taken in divided doses, mimics the normal daytime cortisol profile. Prednisolone, with its longer duration of action, presents a cost-effective, once-daily alternative, yet its comparative efficacy and safety profile in AI management still need to be explored. Therefore, the current study aims to assess the metabolic and cardiovascular outcomes...

Myopathy is a common complication of Cushing’s syndrome (CS), which predicts the possibility of heart muscle damage and may be a cause of heart failure. Goal of this study is to evaluate the prevalence of heart failure in patients with active CS and the probability of recovery after achieving a remission.Materials and methods: We enrolled patients with CS hospitalized in our clinic from October 2018 to December 2022. To confirm the diagnosis of CS w...

Background: Primary adrenal insufficiency (PAI) is sometimes misdiagnosed as autoimmune Addison’s disease (AAD), affecting clinical management and genetic counselling. We tested a polygenic risk score (PRS) for AAD (PRS14AAD) as a tool to reevaluate disease etiology and identify patients misdiagnosed with AAD.Methods: We calculated the PRS14AAD in a cohort of patients diagnosed with AAD but lacking 21-hydroxylase autoantibodies...

Increased cortisol production (Cushing’s syndrome) is a rare disease that is sometimes very difficult to diagnose. Cyclical Cushing’s syndrome in particular is a major challenge. In this case of hypercortisolism, which is not always present, longitudinal diagnostic methods are advantageous. In the past, it has already been shown several times that the measurement of cortisol in the scalp hair shows significantly increased values in patients with Cushing’s syndro...

Backround: The increased frequency of performing imaging investigations in the period following the SARS-COV-2 pandemic has led to more frequent identification of adrenal lesions in patients who subsequently required further endocrine evaluation.Objective: To compare the functional profile of the newly diagnosed lesions vs those coming for follow up over 2023.Methods: Retrospective observational study aiming all of the patients adm...

Introduction: Adrenal masses (AM) are being increasingly diagnosed but only a small portion will need surgical treatment.Methods: We retrospectively reviewed patients referred to the Endocrinology Clinic that underwent adrenalectomy between 1996 and 2023.Results: We included 57 patients. Most AM were diagnosed incidentally (53%) and had a median size of 32 (25) mm. Forty (70%) patients had hormonal hypersecretion (HH): pheocromocyt...

Introduction: Delayed diagnosis of secondary hypertension, notably primary aldosteronism, challenges healthcare. Inconsistent guideline adherence hampers detection rates and diagnostic uniformity, emphasizing the imperative for improved diagnostic strategies in identifying primary hyperaldosteronism. Our study directly addresses this critical gap in clinical care, underscoring the need for enhanced diagnostics in patients undergoing investigation for secondary endocrine hypert...

Background: The recommended first-line screening tests for Cushing’s syndrome (CS) are serum cortisol after 1-mg dexamethasone suppression test (FDST), urinary free cortisol (UFC), and late-night salivary cortisol (LNSC). CS is often diagnosed late: the clinical presentation of endogenous hypercortisolism overlaps with common clinical conditions.Methods: We analyzed the diagnostic test accuracy of FDST, UFC, and LNSC in patient...

Endogenous Cushing’s syndrome is a rare disease, with an incidence of 0.7–2.4 per million people per year. Adrenal origin is described in approximately 20 percent of all cases. Adrenal lymphoma presenting as adrenal incidentaloma with autonomous cortisol production has recently been described, though this is a rare condition. We report a rare case of adrenal Cushing’s syndrome in a patient diagnosed with a low-grade non-Hodgkin’s lymphoma. Female patient, a...

Introduction: Adrenal incidentaloma refers to an adrenal mass discovered incidentally during imaging for another indication, most commonly through a CT scan. The discovery of an adrenal incidentaloma has become frequent with the use of imaging studies. CT scans play a crucial role in characterizing adrenal incidentalomas, allowing for better management. The aim of the study is to determine the contribution of CT scans in exploring adrenal incidentalomas in patients followed in...

Introduction: Primary aldosteronism (PA) is associated with increased prevalence of metabolic disorders such as impaired glucose and lipid metabolism and insulin resistance. Individuals with PA have an increased risk of cardiovascular events. The aim of this study is to determine the characteristics of metabolic syndrome (MS) in patients with PA.Patients and methods: Retrospective study concerning 40 patients with PA over the period of 10 years from Janu...

Introduction: Congenital adrenal hyperplasia encompasses a spectrum of autosomal recessive disorders marked by enzymatic deficiencies in cortisol biosynthesis. The prevailing etiology predominantly involves a deficit in 21-hydroxylase. This pathophysiological state gives rise to a myriad of complications, with acute adrenal insufficiency standing out as the most critical. Nevertheless, it is noteworthy that less-explored are the intricacies of additional complications, particu...

Introduction: Deficiency of 11-beta hydroxylase (11-HD) accounts for 5% of the causes of congenital adrenal hyperplasia (CAH), with an incidence of 1:100,000. The classic form phenotype consists in an excess of androgens and mineralocorticoids, which clinically translates into hypertension and hypokalaemia. In boys, there may be an increase in penis size, early adrenarche, increased growth velocity, and advancing bone age.Clinical case: We present a case...

Introduction: Allgrove syndrome or Triple A (3A) syndrome is a rare autosomal recessive disease characterized by alacrima, esophageal achalasia and adrenocorticotropic hormone-resistant adrenal insufficiency.Observation: A 3-year-old and 9 months patient, from a consanguineous marriage, consulted for melanoderma, with family history: sisters with an heterozygous mutation of the AAAS gene, two paternal cousins, 5 years and 22 years, followed for autism an...

Adrenal tumors are not uncommon in endocrine practice. We collected retrospective data from our clinical records of our patients with adrenal tumors from 2021 January to 2023 January. There were a total 20 patients; males 10 (50%) and females 10 (50%). Mean age was 47.4&pm;10.65 years and average BMI was 26.57&pm;4.94. Hypertension was seen in 13 patients (65%) and diabetes in 9 patients (45%). Nonfunctioning adrenal adenomas (NFAAs) were seen in 12 patients (60%) and function...

Background: Endocrine pathologies are a common cause of secondary hypertension. Most patients with primary aldosteronism and primary hyperparathyroidism suffer from hypertension. Although the coexistence of parathyroid adenoma and cones syndrome in the same patient is uncommon, the occurrence of these two adenomas at the same time can have significant implications for the patient’s clinical presentation, diagnostic evaluation, and treatment approach.<p class="abstext"...

Introduction: Pheochromocytomas and paragangliomas (PPGLs) are chromaffin cell tumors that arise from neuroectodermal cells. These tumors are characterized by a very heterogeneous natural history and an unpredictable ability to metastasize. The rate of metastatic disease ranges from lessthan 1% to 79%, depending on tumor site and size, age at diagnosis and genotype.30% are considered to be hereditary. Primary hyperparathyroidism can be associated with PPLGs. We report a case o...

Introduction: Pheochromocytoma is a rare tumour of the adrenal medulla. The aim of our work is to describe the clinical, biological and anatomopathological profile of pheochromocytomas.Material and method: Retrospective descriptive study carried out in the endocrinology department of the Fattouma Bourguiba University Hospital, Monastir, Tunisia.Results: Analysis of a series of 13 cases found 9 women and 4 men with an average age of...

Introduction: The prevalence of metabolic syndrome (MS) is constantly increasing, particularly among young individuals with sedentary professions. Identifying individuals with MS is crucial for implementing personalized interventions to prevent cardiovascular events. Our study aimed to assess the metabolic profile of young and healthy healthcare professionals, considering the specific lifestyle linked with their professional roles.Methods: This cross-sec...

Background: An adrenal incidentaloma (AI) is defined as an adrenal lesion that is discovered when a radiological study is performed for indications other than suspected adrenal disease. All patients with an AI should be evaluated for endocrine adrenal functioning and malignancy potential features. A combination of pheochromocytoma and Cushing’s syndrome in same adrenal gland is extremely rare. We report a case of AI with the evidence of both pheochromocytoma and sub-clini...

Introduction: Assessment of adrenal insufficiency (AI) is done routinely through Synacthen test. However, the conventional high dose (250 μg) stimulation is supra-physiological, therefore 1 μg low dose test was developed.Aim: to investigate the utility of the Low-dose test vs the High-dose test, in patients with suspected central AI, in a tertiary centre of endocrinology, in the National Institute of Endocrinology, Bucharest, Romania.<p cla...

Introduction: The diagnosis of Cushing’s syndrome (CS) is often challenging and requires the use of several diagnostic methods. Late-night salivary cortisol (LNSC) offers an easy, non-invasive screening method for CS. However, its availability is still limited and the cut-off values vary widely between laboratories. The aim of this study was to assess the diagnostic value of LNSC for CS in comparison with late-night serum cortisol (LNSerC) and 24-hour urinary free cortiso...

Introduction: Adrenal insufficiency can result in a life-threatening situation if undetected. This pathology is diagnosed by performing an ACTH-Test. Most symptoms like fatigue, loss of weight or arthralgia are rather unspecific. Therefore it is difficult to assess which patients really need an ACTH-Test. Aim of this study was to identify risk factors and indications in order to specify which patients actually require it.Material and methods: 324 patient...

Background: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome. Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess has never been studied before.Methods: We investigated a woman with a large, heterogeneous 7 cm adrenal mass (with a radiologically normal contralateral adrenal) and adrenocorticotropic hormone (ACTH)-independent glucocorticoid and androge...

Introduction: Primary aldosteronism (PA) is commonly identified as the main cause of secondary hypertension. It is becoming increasingly wide-spread, affecting between 1 and 30% of people suffering from hypertension. We aim to determine the different characteristics between aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (BAH).Patients and methods: Retrospective descriptive and analytical study concerning 40 patients with PA, collec...

Background: X-linked adrenoleukodystrophy (X-ALD) is a hereditary disease that occurs in boys in childhood and adolescence, with cases being rarer in adulthood. Primary adrenal insufficiency (PSI) is present in more than 50% of patients and in 10% it is the only manifestationCase report: 24-year-old male, diagnosed with primary adrenal insufficiency as a child. The pathological history included dyslipidemia, obesity, prediabetes and parietospastic gait a...

We describe the case of a 52-year-old female, with a body mass index of 32 kg/m2 and without significant co-morbid illness who initially presented acutely, with self-resolving abdominal pain. During that admission, an abdominal computed tomography (CT) scan demonstrated a right-sided heterogeneous and contrast enhancing adrenal mass (measuring 59×41 mm) with a 15 mm focus of cystic degeneration. Based on the scan appearances, the patient was suspected as having...

Introduction: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy arising from the adrenal cortex often with unexpected biological behavior. It can occur at any age, with two peaks of incidence: in the first and between fifth and seventh decades of life. Although ACC are mostly hormonally active, precursors and metabolites may be also produced by dedifferentiated and immature malignant cells.Case report: We report a rare and challenging case of...

Introduction: The 1-mg overnight low-dose dexamethasone suppression test (DST) has been used to screen for mild autonomous cortisol secretion and Cushing’s syndrome (CS). The aim of the present study was to determine the DST discriminatory threshold confirming the diagnosis of CS.Methods: This was a monocentric retrospective study including patients who were admitted to the Department of Endocrinology of La Rabta Hospital, Tunis between 2014 and 202...

Pheochromocytomas are rare tumors located in the adrenal medulla, that derive from the chromaffin cells and produce catecholamines. They are an uncommon cause of hypertension, and only 50% of the patients present symptoms compatible with this pathology. Here we describe the case of a 67-year-old man who was referred with h/o mild headache, hypertension and adrenal incidentaloma detected by CT abdomen and pelvis which showed 4.5 cm indeterminate nodule in the left adrenal gland...

Introduction: Pheochromocytoma is a rare tumor of adrenal gland tissue. It results in the release of too much epinephrine and norepinephrine, hormones that control heart rate, metabolism, and blood pressure. The clinical manifestations of patients with pheochromocytoma are diverse, ranging from asymptomatic, paroxysmal hypertension, episodic anxiety to devastating acute heart failure and acute pulmonary edema, which all increase the difficulty of identifying and diagnosing it....

<table Introduction: Neurofibromatosis type 1 is a multi-organ genetic disease, commonly occurring with variable severity. Pheochromocytoma is a rare manifestation in NF1, affecting 1-15% of NF1 patients according to studies.Case Report: We present 2 cases: - Patient 1: 28 years old, with personal history of café au lait spots, cutaneous and subcutaneous neurofibromas, axillary lentigines. Referred for endocrinology consultation due to an adrenal m...

Introduction: Cavernous hemangiomas (CH) are benign vascular tumors that frequently involve the skin, central nervous system or liver. Rarely, they can also affect adrenal glands. Adrenal cavernous hemangiomas are mostly unilateral lesions, typically discovered incidentally on radiological imaging. They generally present in the sixth to seventh decade of life and tend to be asymptomatic and non-functioning tumors. Preoperative differential diagnosis from malignant neoplasms ow...

Introduction: Adrenal scintigraphy using [131I]6ß-iodomethyl-19-norcholesterol has been available since 1975, primarily for the diagnosis of hyperaldosteronism helping to distinguish between unilateral adenoma and bilateral hyperplasia. First line treatment of ACTH-independent form of Cushing syndrome is surgery after localization of the cortisol-producing adrenal tumour.Case report: A 31-year-old woman has been referred to the endocrine ...

Introduction: Only few studies were observed, supporting the hypothesis that the administration of high doses of vitamin E in people with elevated serum total cholesterol levels leads to increased adrenocortical hormone secretion. There are only limited data concerning androgen or estrogen levels. The aim of this study is to investigate the possible effect of Vitamin E on adrenal and sex hormones in rabbits with hypercholesterolemia, as an animal model for the research.<p ...

Introduction: Paragangliomas are neuroendocrine tumors that develop from the paraganglia of the sympathetic and parasympathetic nervous systems. They are benign in approximately 80% of cases and are usually localized. However, in rare situations, they can be malignant, which is defined by the presence of tumor cells in nearby tissues or at a distance (metastases). Most parasymphathetic paragangliomas are located in the skull base and along the vagus and glossopharyngeal nerves...

Introduction: Pheocromocytomas are catecholamine-secreting tumors that arise from cromaffin cells of the adrenal medulla, probably occurring in less than 0.2% of pacients with hypertension. The objective of this report is to describe a case of norepinephrine-only secreting pheocromocitoma.Case description: A 43-year-old female pacient presented with hypertension, recent onset diabetes and right adrenal mass measuring 3.5×2.7 cm on a CT scan. Hormona...

Introduction: Pheochromocytoma is a rare tumor, representing a cause of secondary endocrine hypertension. Traditionally, prior to the widespread availability of imaging investigations, pheochromocytoma was diagnosed based on the triad: headache, palpitations and sweating. Diagnosis is crucial, as 40-50% of pheochromocytoma patients exhibit genetic mutations associated with multiple syndromes, such as MEN2 syndrome, succinate dehydrogenase enzyme mutations, neurofibromatosis ty...

Introduction: Adrenocortical oncocytomas, made up of specific epithelial-origin cells, are rare neoplasms, generally without hormonal activity. Most of them are considered to be benign tumors, with the size of generally 4-8 cm and lack of pathognomonic radiological features.Case Report: This is a 2 year follow up of a 43-year-old woman, who first referred to the endocrinologist in 2021 due to weight gain, resistant arterial hypertension and menstrual irr...

The co-occurrence of congenital adrenal hyperplasia and type 1 diabetes mellitus (T1DM) is a rare phenomenon in existing literature. The primary cause of congenital adrenal hyperplasia (CAH) is often 21-hydroxylase deficiency (21OHD), a condition associated with the CYP21A2 gene located on chromosome 6p21.3 within the major human leukocyte antigen (HLA) histocompatibility locus. Various gene polymorphisms, particularly in HLA-DQalpha, DQbeta, and DR genes on chromosome 6p21.32...

A 68-year-old man with history of non-muscle-infiltrating bladder tumor and atrial fibrillation was referred to the Endocrinology Department in November 2020 for a functional study of a left adrenal incidentaloma. Furthermore, the patient had a history of arterial hypertension diagnosed at the age of 45 years, on treatment with 3 drugs (enalapril 20 mg B.I.D., amlodipine 5 mg B.I.D., hydrochlorothiazide 12.5 mg/day), achieving usual blood pressure (BP) levels of 150/90 mmHg. A...

Introduction: Hypercortisolism is considered to be a rare condition with an estimated incidence between 0.4 and 2.4 cases per million per year, typically manifests as the clinically and biochemically evident Cushing’s syndrome. However, a more subtle form, known as subclinical hypercortisolism (SH) or autonomous cortisol secretion (ACS), poses diagnostic challenges. It is defined as excessive cortisol secretion without the classic manifestations of clinically overt Cushin...

Background: Multifocal tuberculosis is defined as the involvement of at least two extra-pulmonary sites, with or without pulmonary involvement. The most commonly involved endocrine organ is the adrenal gland. We report a case of adrenal insufficiency revealing multifocal tuberculosis.Case report: A 65 year old female patient with no context of immunosuppression, presented to emergency department with Consciousness disturbance associated with severe hypon...

Congenital Adrenal Hyperplasia (CAH), a genetic adrenal gland disorder, can disrupt hormonal balance, leading to fertility issues in females. Timely interventions, like hormone therapy, are essential for managing fertility concerns and ensuring a safe pregnancy for individuals with CAH. A 28-year-old patient consulted an endocrinologist for a detailed examination due to infertility issues persisting for 2 years. Prior to this, the patient had given birth to a 22-week-old newbo...

Introduction: In post-menopausal women, the differential diagnosis of hirsutism caused by testosterone excess includes ovarian and adrenal sources. Bilateral ovarian hyperthecosis is a common cause of testosterone excess in post-menopausal women and the diagnosis is confirmed by histopathological examination of the ovaries. Adrenal tumors causing testosterone excess is exceedingly rare. In fact, most causes of hirsutism secondary to adrenal tumors is due to dehydroepiandroster...

Introduction: Advances in diagnosis and treatment over the years have improved the life expectancy and quality of life for individuals with congenital adrenal hyperplasia (CAH). The inevitable alteration of the hypercortisolism-hyperandrogenism balance with current CAH therapy could be responsible for several anomalies in the gonadotropic axis and compromise fertility. This study aims to investigate this aspect in an aging Tunisian population of patients with CAH.<p class=...

Introduction: Primary aldosteronism (PA) is commonly identified as the main cause of secondary hypertension. It is becoming increasingly wide-spread, affecting between 1 and 30% of people suffering from hypertension. A prolonged exposure to high aldosterone concentrations has a deleterious effect on cardiovascular tissues and is associated with target organ damage, independently of blood pressure, so a higher risk of cardiovascular events has been reported in patients with pri...

Introduction: Congenital adrenal hyperplasia (CAH) in its classical form is an early-onset and challenging-to-treat condition with long-term evolution associated with significant morbidity, typically involving metabolism, bone, and gonadal aspects. Through this specific case study, we illustrate one of the rare complications of CAH in adulthood.Case Report: A 24-year-old patient, born of consanguineous parents, has been monitored since birth for classica...

Introduction: Primary aldosteronism (PA) is frequently recognized as the main cause of secondary hypertension. Its prevalence is on the rise, impacting a range of 1 to 30% among individuals with hypertension.Patients and methods: Retrospective and descriptive study concerning 40 patients with PA, collected in the endocrinology department of the Hedi Chaker University Hospital of Sfax, over the period of 10 years from January 2010 to December 2022.<p ...

Introduction: The adrenal incidentaloma is an asymptomatic tumor measuring at least one cm, discovered incidentally during a medical imaging examination. The adrenal incidentaloma continues to grow with technological advances and improved radiological examinations. Any adrenal incidentaloma involves the search for a secretion or malignant character. The objective of our study is to study the clinical, biological and etiological aspects of adrenal incidentalomas.<p class="a...

Introduction: An Addison’s crisis is a life-threatening situation that usually results hypotension/hypovolemic shock, nausea or vomiting, fever, loss of consciousness, hyponatremia (Na ≤132 mmol/l), hyperkalemia and hypoglycemia.Case description: 33 years old patient was found at home after firefighters broke down the door, with a lot of stomach contents around. The last contact with relatives was a day ago, when the patient complained of feve...

Introduction: Adrenal-renal fusion is a rare entity wherein the capsule of the adrenal gland is fused to the kidney. Generally asymptomatic, it is only in pathological situations or in cases of adrenal or renal resection that this situation can cause problems. Adrenal transplantation has long been studied in rats solely to treat adrenal insufficiency, but no cases of accidental transplantation have been reported. Here, we report a case of adrenal-renal fusion making intraopera...

Objectives: to modify the classification of autoimmune adrenal insufficiency (AAI).Methods: n=8 patients with early stages (potential and latent) of AAI were included (table 1).Results: Based on the analysis of clinical and laboratory data of patients, a modified classification of AAI has been developed (table 2).Table 1. Characteristics of patient...

Case presentation: A 67-year old diabetic and hypertensive female, with no significant family history, first underwent total thyroidectomy, with a histological and immunohistochemical result of both papillary thyroid carcinoma (PTC) T3Nx stage III and medullary thyroid carcinoma (MTC), with additional radioiodine treatment for PTC, showing excellent response to therapy at follow-ups (stimulated thyroglobulin <0.2 ng/ml, normal CEA and calcitonin). Almost 10 years later, th...

Introduction: Adrenal incidentalomas (AI) are adrenal masses detected on imaging performed for reasons other than suspected adrenal disease. It is important to categorize whether the mass is a functioning or non-functioning incidentalomas to determine the appropriate management and follow-up. The aim of this study was to assess demographic, clinical, and paraclinical features of patients with AI.Methods: This was a monocentric retrospective study includi...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders, CAH is caused by a mutation in the CYP21A2 gene that leads to a deficiency of 21-hydroxylase (CYP21), due to CYP21A2 gene mutations. Testicular adrenal rest tumors (T-ARTs) is a rare kind of benign tumor in the testis, which occurs mainly secondary to congenital adrenal hyperplasia (CAH). We report a rare case of bilateral TART in a patient with CAH whose diagnosis wa...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. Its treatment aims to achieve a balance between optimal glucocorticoid replacement and normal androgen levels. The long-term outcomes of this condition are poorly studied. The objective of this study is to evaluate the impact of CAH due to 21-hydroxylase deficiency on final height (FH), bone metabolism, and cardiometabolic risk in a Tunisian cohort.<p ...

Overview: Congenital adrenal hyperplasia is a group of autosomal recessive disorders. In the presented case we will evaluate milder form of the disease, also referred as, non-Classical’’. Prevalence of CAH is 1-9/100000. In 90-95% of cases, CAH is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3Presented case: 16-year-old girl came to our clinic with amenorrhea, she had her last menstrual cycle 1 year ago. No signs...

Introduction: Precocious puberty is characterized by the onset of signs of puberty before the usual age and can be caused by various etiologies. Congenital adrenal hyperplasia represents a rare cause of precocious puberty. Our aim was to report a case of a child with precocious puberty.Observation: A 4-year-old and 11 months patient, from a consanguineous marriage, hospitalized in the endocrinology department for precocious puberty. The clinical examinat...

Introduction: Allgrove syndrome or triple A syndrome is a rare genetic disorder of autosomal recessive inheritance combining in its complete form: esophageal achalasia, alacrymia and adrenal insufficiency.Observation: Patient aged 16, 3rd of 4 siblings from a consanguineous marriage, followed for allograve Sd with megaesophagus operated on in 2016, alacrymia with artificial tears and neurological impairment. As part of the follow-up of his pathology, an ...

Introduction: APS-2 is the most common autoimmune polyendocrine syndrome. It is characterized by the presence of various endocrine-related diseases, such as autoimmune thyroid disease, type 1 diabetes mellitus, Addison’s disease, primary hypogonadism, and, in rarer cases, hypoparathyroidism or hypopituitarism.Case report: Our patient is a 38-year-old female with a medical history of type 1 diabetes mellitus (DMT1) for 13 years, Hashimoto’s thyr...

Introduction: Primary aldosteronism (PA) is widely recognized as the most common form of secondary hypertension (1). PA, also known as Conn syndrome, is a group of pathological conditions associated with an aldosterone secretion inappropriate for sodium intake, that is relatively autonomous from renin–angiotensin system activity and potassium levels.Clinical Case 1: Thirty two year-old patient, diagnosed since 11 months with arterial hypertension wi...