Endocrine Abstracts

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare autosomal recessive disorder characterized by deficiency of cortisol and oftentimes aldosterone, with elevated adrenocorticotropic hormone (ACTH) and steroid precursors that are shunted toward excess androgen production. A phase 2 study of adults with classic 21OHD demonstrated that crinecerfont–an oral, non-steroidal, selective corticotropin-releasing factor type...

The Mineralocorticoid Receptor (MR, NR3C2) mediates sodium-retaining action of aldosterone. Recently, we have shown that the physiological sodium loss observed in newborns in their first days of life is due to a low renal MR expression. However, the underlying molecular mechanisms remain unknown to date. In the adult renal KC3AC1 cell line, we demonstrated that variations in extracellular tonicity, which exist in the nephron, modulate MR expression by posttranscriptio...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that is caused by mutations of genes involved with adrenal steroidogenesis. The mutations mostly occur in the 21-hydroxylase gene and rarely in the 3β-hydroxysteroid dehydrogenase gene or 11β-hydroxylase genes. Our aim is to present a series of 3 cases of patients with late onset CAH, probably due to 21-hydroxylase deficiency, after 50 years of age.Case series...

Background: Hypogonadism is frequent in men with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). It has recently been demonstrated that testicular adrenal rest tumors (TART) are a source of 11-oxygenated androgens that might impair testicular function, in addition to their local compressive effects. Data on long-term course of testicular function in men with 21OHD and the role of potential influential factors such as presence of TART and 11-oxyge...

Background: Arterial hypertension (AH) and 2 type diabetes mellitus (2TDM) are the critical risk factors for the development of cardiovascular diseases. Catestatin (CTS) is known as a marker of AH via its antiadrenergic and vasodilating actions, but also can improve insulin sensitivity.Objective: To investigate the relations between CTS levels and parameters of carbohydrate metabolism in patients with AH, including AH with 2TDM, and establish the prognos...

Up to 40% of pheochromocytoma cases have a genetic background. The prevalence of pheochromocytoma in neurofibromatosis type 1 (NF1) was reported to be from 0.1 to 5.7%. However, the actual incidence of pheochromocytoma in NF1 seems to be underestimated. Current recommendations on NF1 do not include systematic biochemical screening for the presence of pheochromocytoma. Our aim was to analyse clinicopathological characteristics of pheochromocytoma in the course of NF1 syndrome w...

Background: There is currently no agreed consensus for the optimization and titration of mineralocorticoid (MC) therapy in patients with primary adrenal insufficiency (PAI).Objective: To measure serum (sFC) and urine (uFC) fludrocortisone levels and explore their relationship with biochemically and clinically important variables (including treatment compliance) in order to evaluate their usefulness as markers to guide the MC replacement titration.<p ...

Hyponatraemia is the commonest electrolyte disturbance among inpatients. Prompt diagnosis and management of the underlying cause is important. A 49-year-old Caucasian male presented to the emergency department with a two-day history of fever, altered mental status, vomiting, diarrhoea and postural dizziness. A rapid point of care RT-PCR test resulted positive for the SARS-CoV-2. A provisional diagnosis was presented of COVID-19 encephalopathy. The patient was usually fit and w...

Introduction: Low-dose dexamethasone suppression test is used to screen for excess cortisol production (Cushing’s syndrome). It is recommended to use cut-off for suppression of serum cortisol (SC) < 50 nmol/l after 1 mg dexamehason suppression test (DST). Plasma dexamethasone levels are affected by many factors resulting in lower test specificity. Simultaneous analysis of dexamethasone and cortisol levels can improve diagnostic accuracy of DST. We used cut-off level o...

Aim: To evaluate the prevalence and incidence of type 2 diabetes in patients with nonfunctioning adrenal incidentalomas (NFAI) and autonomous cortisol secretion (ACS) coming from a cohort of adrenal incidentalomas consecutively evaluated in a tertiary hospital in a predefined period (2013-2020).Methods: In this retrospective study, adrenal incidentalomas ≥1cm with ACS and NFAI were included. ACS was defined by a post-dexamethasone suppression test ...

Purpose: Diagnosis of adrenal lesions requires hormonal investigation and morphological characterization; when CT and MRI imaging are equivocal, 18F-FDG-PET/CT could be a useful tool, although sensitivity and specificity varied among cohorts. The use of tumour-to-liver maximum standardized uptake values (SUVratio) was found to be accurate, but the best threshold value has not been identified yet. A SUVratio > 1.5 was associated with malignancy with a good performance. The ...

Background: Tertiary adrenal insufficiency (TAI) is a complication of long-term exogenous steroid use which results in suppression of the hypothalamic-pituitary-adrenal (HPA) axis. The short synacthen test (SST) is used to assess HPA axis function and recovery during glucocorticoid weaning. This study examined the effect of steroid preparation, dosage and therapy duration on HPA axis suppression.Method: A retrospective analysis of 950 SSTs performed betw...

Introduction: Osilodrostat is the newest approved steroidogenic inhibitor drug for the treatment of Cushing’s syndrome (CS). In this presentation, we describe 3 patients who experienced an unexpectedly prolonged adrenal insufficiency following interruption of this treatment.Methods: A monocentric retrospective analysis (October 2019 to January 2023) of ACTH-dependent CS patients controlled with Osilodrostat was performed to identify patients with pr...

Background: Chronic opioid use may lead to adrenal insufficiency (AI) due to suppression of the hypothalamic-pituitary-adrenal axis. We aimed to determine incidence of AI and mortality in patients treated with chronic opioid therapy in a standardized geographically well-defined population.Methods: In this population-based cohort study we assessed the standardized incidence rate of first time met chronic opioid use and adrenal insufficiency in adult resid...

The neonatal immune system is not fully developed, making neonates more susceptible to early-life infection. Early-life activation of the immune system has lasting implications for health and disease. Glucocorticoids (GCs) are steroid hormones that modulate the immune response and increase in response to immune activation. GCs are produced by the adrenal glands and also by lymphoid organs (e.g., bone marrow, thymus, spleen). In neonatal mice, GC levels increase acutely in bloo...

Background: Primary adrenal insufficiency (PAI) has been associated with increased risk of infection, adrenal crises and a higher mortality rate. This is caused by altered circadian cortisol profiles, which ultimately lead to immune cell dysregulation. In this study, we aim to characterize differences in immunophenotype of PAI patients of three different etiologies.Methods: Cross-sectional single center study including 28 patients with congenital adrenal...

Purpose: To gain an understanding of lived experiences of the role of family and carers during an acute episode of adrenal crisis through qualitative interviews with family carers. To gain an understanding of the role of family members and cares during an acute episode and to make recommendations for future standards of care in supporting family and carers to support self-management for loved ones, and health care professionals.Methods: This study used t...

Introduction: Some studies have already described an association between mild autonomous cortisol secretion and poorer bone quality and increased risk of fracture. However, no consensus exists on this topic and currently there are no guidelines recommending bone status evaluation in patients suffering from this condition.Aims: To evaluate bone mineral density in patients diagnosed with autonomous cortisol secretion (ACS) and possible autonomous cortisol ...

Background: Long-term, low-dose prednisolone treatment (≤5mg/day) is associated with adrenal insufficiency in >33% of patients. Nevertheless, the clinical consequences of glucocorticoid-induced adrenal insufficiency in patients receiving ongoing low-dose glucocorticoid treatment are unknown. Current clinical guidelines do not recommend routine evaluation of adrenal function during low-dose glucocorticoid treatment, and patients are not routinely instructed to increase gl...

Introduction: Primary aldosteronism (PA) is a common cause of secondary hypertension that can lead to renal sequelae. Treatment of hyperaldosteronism leads to reductions in albuminuria and glomerular hyperfiltration. We aimed to evaluate the effect of treatment on albuminuria and temporal changes in renal function after treatment with both surgery and medications.Methods: We prospectively recruited patients with PA over three years. Spot urine samples fo...

Introduction: Effective management of the transition from childhood to adulthood in congenital adrenal hyperplasia (CAH) can reduce the problems that may arise in the follow-up during adulthood.Aim: Evaluation of the clinical characteristics and sociodemographic data of CAH patients transferred from the Pediatric Endocrinology Clinic to the Adult department of our hospital and the comparison of the 2 transition models carried out during this period was t...

Introduction: Adrenal incidentalomas (AIs) are increasingly being identified due to more frequent use of cross-sectional imaging modalities. Recent studies reported AIs being identified in 7.3% of abdominal CT imaging. Most adrenal incidentalomas are adenomas that may have secretory activity.Case Report: An 80-year-old lady presented to our Emergency department with one week’s history of worsening right eye bulging and discomfort. She was found to h...

The majority of adrenocortical carcinomas (ACC) overexpress insulin-like growth factor 2 (IGF2). Although IGF2 drives a proliferative autocrine loop by binding to IGF1R and the isoform A of the insulin receptor (IRA), most studies focused on IGF1R. Recently, a high expression of IRA was observed in ACC vs normal adrenal tissues (NA), suggesting its potential involvement in modulating IGF2 effects in adrenocortical tumorigenesis. Aim of this study was to investigate the specifi...

The heart not only has a mechanical function of pumping blood through vessels but also acts as an endocrine gland. In its endocrine function, the heart releases atrial natriuretic peptide (ANP), a hormone of a large family of natriuretic peptides. ANP is secreted from cardiac atria as an inactive preprohormone. In post-translational modification, 25-amino acid signal sequence is cleaved from preprohormone to produce proANP of 126-amino acid, which is the major form of ANP stor...

Background: There have been conflicting reports on fertility, reproduction rates and pregnancy outcomes in women with congenital adrenal hyperplasia (CAH). Identification of potential modifiable influential factors of pregnancy outcomes in these women has been hampered in the past by either small sample sizes or data derived from epidemiological samples.Methods: Retrospective multi-center study including a total number of 72 women with CAH (n=34...

Introduction: Corticotropin-releasing factor type 1 (CRF1) receptor antagonists, such as crinecerfont, have recently been investigated for the treatment of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD), a rare autosomal disease characterized by cortisol deficiency, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a study of adults with 21OHD, treatment with crinecerfont for 14 days led to median ...

Background: Treatment for advanced adrenocortical carcinoma (ACC) consists of mitotane alone or combined with etoposide, doxorubicin and cisplatin (EDP), yet their efficacy is limited and burdened with significant toxicity. Moreover, markers of response are lacking. Inflammation-based scores have been proposed as prognostic factors in several malignancies including ACC, and recently also as predictors of gemcitabine+capecitabine efficacy, second-line treatment in progressive d...

Background: The cortisol suppression test with 1 mg dexamethasone (DST) is a screening test for hypercortisolism with high sensitivity (95%) for serum cortisol cut-off <1.8 μg/dl. However, cortisol tests may give false positive in patients with severe obesity (SO). On the other hand, bariatric surgery (BS) is the most effective treatment for SO, and the operated population is growing. At present there is no reliable data regarding the impact of BS on DST results in pa...

Maturation of the definitive adrenal cortex occurs between 3 and 6 weeks post-partum and involves onset of CYP11B2 expression and establishment of the laminin-encased 3D structure of glomeruli that contain rosettes of 10 to 15 zona glomerulosa (zG) cells that work in coordination to produce optimal amounts of aldosterone. Although this process is dependent on canonical WNT/b-catenin signaling, cellular sources of WNT ligands remain elusive and the mechanisms involved in the ex...

Background: Patients with adrenal insufficiency (AI) require long-term glucocorticoid (GC) replacement therapy and generally show an increased prevalence of bone metabolism alterations. Only few data are available on bone safety of dual-release Hydrocortisone (DR-HC) therapy.Objective: To evaluate bone metabolism in both primary AI (PAI) and secondary AI (SAI) during long-term therapy with DR-HC.Methods: We studied patients with AI...

Glucocorticoids play a significant role in immune modulation and regulation of inflammation. In patients with endogenous glucocorticoid excess (Cushing’s syndrome [CS]) multiple haematological alterations are recognized, such as neutrophil leukocytosis, lymphopenia, and eosinopenia, often leading to severe clinical complications. However, little is known in patients with mild autonomous cortisol secretion (MACS). Serum inflammation-based scores may reliably reflect system...

Introduction: Pheochromocytomas(PC)are rare catecholamine-producing neuroendocrine tumors. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial PC and paragangliomas (PGL) with an autosomal dominant pattern of inheritance and an overall frequency estimated at 1.9%. Other endocrine and non endocrine tumors can be associated to germline MAX mutations.Case presentation: We report a case of a 37 years old male patient,...

Introduction: Recent studies found an increased cardiometabolic risk in patients with Non-Functioning Adrenal Incidentaloma (NFAI), but all these data have low quality of evidence.Objective: To establish whether cardiometabolic risk and complications in NFAI patients can be associated to the presence of a non-secreting adrenal tumor, independently from potential confounding factors.Subjects and Methods: In this cross-sectional and ...

Adrenocortical carcinoma (ACC) is a rare malignancy associated with a poor prognosis (1). Current treatments are limited with surgical resection the only option for a complete cure (2). The development of translational therapies is limited by pre-clinical disease models. Three-dimensional (3D) cell culture models can accurately reflect the tumour micro-environment but are lacking in ACC (3). In the current study, we developed and characterised novel 3D models of MUC-1, HAC15 a...

Background: The diagnosis of pheochromocytoma and paraganglioma (PPGL) requires the measurement of plasma metanephrines; however, several pre-analytical parameters can lead to false positive test results. During venipuncture, pain perception may activate the sympathetic nervous system, increasing catecholamine metabolite levels. Furthermore, hypertension patients exhibit sympathetic hyperactivity compared to normotensive subjects. The purpose of this study was to compare the p...

Purpose: To evaluate the prevalence of autonomous cortisol secretion (ACS) in patients with primary aldosteronism (PA) and its implications on cardiometabolic and surgical outcomes.Methods: A retrospective multicenter study of PA patients who underwent 1mg-dexamethasone suppression test (DST) in follow-up in 21 Spanish tertiary hospitals. ACS was defined as a cortisol post-DST >1.8μg/dL (confirmed ACS if >5μg/dL and possible ACS if between 1.8-...

Background: The systematic use of confirmatory tests in the diagnosis of primary aldosteronism (PA) increases costs, risks and complexity to the diagnostic work-up. In light of this, some authors proposed aldosterone-to-renin (ARR) cut-offs and/or integrated flow-charts to avoid this step. Patients with resistant hypertension (RH), however, are characterized by a dysregulated renin-angiotensin-aldosterone system, even in the absence of PA. Thus, it is unclear whether those str...

Chronic stress is a pervasive concern in the modern society. A long-term hyper activation of the hypothalamic-pituitary-adrenal (HPA) axis leads to elevated amounts of stress hormones [e.g. ACTH and glucocorticoids (GCs)]. This can incur maladaptation that eventually contributes to mental illness, cardiovascular dysfunctions, diabetes, cancer and autoimmune diseases. Emerging key players for stress adaptation of the HPA axis are stem/progenitor cell populations. In this study,...

Background: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is associated with ACTH-driven adrenal androgen excess. In women with classic CAH, this regularly causes prenatal virilisation of the external genitalia, commonly corrected by genital surgery during the first years of life. This practice, however, has been questioned and is discussed highly controversial. The aim of this study was to retrospectively assess the perspective of affected patients and...

Background: Following vaccination for SARS-CoV-2 a significant proportion of individuals experience moderate to severe symptoms. In patients with adrenal insufficiency (AI) this has been reported to translate in to need for increased glucocorticoids and incipient or frank adrenal crises. We assessed occurrence of symptoms, need for glucocorticoid dose adjustment and crises in a large cohort of patients with AI following vaccination for SARS-CoV-2.Methods...

Introduction: Statins are used in the management of hypercholesterolemia and the prevention of cardiovascular diseases. However, by reducing cholesterol biosynthesis, steroidogenesis and particularly testosterone synthesis may be affected. The aim of our study was to assess the effect of high doses of statin therapy on testosterone levels in type 2 diabetes male patients.Methods: This was a single-center, prospective study, during the period march 2021 -...

Changes in the composition of the extracellular matrix (ECM) induce different cell signaling in normal tissues and in pathological conditions. ECM alteration in the adrenal microenvironment may contribute to both the development and function of adrenal gland. The adrenal gland consists of a cortex, with three concentric zones, glomerulosa (ZG), fasciculata (ZF) and reticularis (ZR), and the medulla (M), surrounded by a capsule. Here, we describe the differences among the ECM s...

Pathogenic ARMC5 variants are the main genetic cause of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) explaining roughly 20% of index cases. These variants found both at germline and somatic level are mostly frameshift and nonsense leading to a loss of its function. ARMC5 acts then, as a tumor suppressor gene but little was initially known on its function. Using an RNAseq analysis on transient zebrafish models of Armc5 up- and d...

Objective: Exogenous estradiol increases cortisol binding globulin (CBG) and total cortisol (TC), and therefore it is debated if estradiol supplementation should be paused before evaluation of the adrenal axis. The aim was to evaluate how oral and transdermal estradiol influence TC in hypogonadal women with, or at risk of developing, adrenal insufficiency (AI)Methods: This was a crossover study in 17 women with secondary hypogonadism who were tested with...

Introduction: Primary aldosteronism (PA) is the most frequent form of secondary hypertension. Over the past 10 years, important discoveries have been made regarding the genetic basis of aldosterone producing adenoma and familial forms of primary aldosteronism. In most cases, genetic abnormalities are found in genes coding for ion channels (KCNJ5, CACNA1D, CACNA1H, CLCN2) and pumps (ATP1A1, ATP2B3). These mutations affect intracellular ion homeostasis and/or c...

Introduction: Relative adrenal insufficiency (RAI) is common in critically ill patients and is characterized by the normal adrenal reserve for homeostatic demands and inadequate cortisol response in acute stress situations. RAI can also occur in patients with liver cirrhosis, both compensated and decompensated. However, it is often forgotten and difficult to diagnose due to the overlap between clinical symptoms of adrenal insufficiency and decompensated liver disease. Also, hy...

Composite pheochromocytomas (CP) are rare and constitute 3% of pheochromocytomas. So far, less than 100 cases were described in the literature. We present a case of 60 years old man. He was admitted to ER department due to severe bone pain around chest, ribs and vertebra. CT scan showed expansive, 100x87 mm, non-homogenic left adrenal gland tumour as well as metastatic bone lesions. The 24-hour urinary fractionated metanephrines were significantly elevated - 86195 ug/24h (norm...

Introduction: Testosterone-based gender-affirming hormone therapy (GAHT) may have negative consequences on cardiovascular risk, with reported increased blood pressure, decreased HDL-cholesterol, and weight gain. Still, data on cardiometabolic changes in transgender men on GAHT remain controversial. Testosterone-based GAHT also modifies body composition and lean muscle mass, but the degree to which affects serum creatinine and other measures of kidney function is still not clea...

Controlateral recurrence of pheochromocytoma is frequent in MEN2 patients. Cortical sparing adrenalectomy is currently recommended in this situation, but conveys a risk of adrenal insufficiency in up to 45 % of patients. The natural history of recurrent pheochromocytome is poorly known. Thus, appropriate timing of surgery and the possibility to postpone safely surgery remain debatable. We report our experience of long-term follow up of non-operated 16 pheochromocytomas in 13 M...

Dopamine agonists can falsely elevate plasma and urinary metanephrines, thus making the diagnosis of pheochromocytomas in patients taking these medications challenging. We present the case of an 80-year-old female care home resident with a background of hypertension, Parkinson’s disease (PD), dementia and pernicious anaemia. She presented with weight loss, unilateral leg swelling and abdominal distension. A computed tomography (CT) showed a 5.6 cm heterogeneously enhancin...

Adrenal insufficiency is a life-threatening condition in which the adrenal glands fail to produce adequate amounts of steroid hormones thus leading to severe disturbances of body homeostasis. Today’s treatment options are limited to hormone replacement therapies that are, however, hampered by serious side effects. Cell replacement therapies with adrenocortical stem cells could present a potential cure, but the culture of such stem cells has proven difficult. We have devel...

Introduction: There are data reporting an increased risk of cardiovascular and metabolic complications in patients with NCAH. This is frequently attributed to glucocorticoid (over)use. It seems that long-term exposure to increased androgens concentration may also itself lead to diminished insulin sensitivity and increased risk of prediabetes and diabetes.Aim: The aim of the study was to assess the link between NCAH diagnosis and glucose metabolism distur...

Background: Pheochromocytoma and paraganglioma (PPGL) are rare endocrine tumours that secrete catecholamines. Methoxycatecholamines in free plasma or fractionated methoxycatecholamines in 24-hour urine collections are the recommended tests for the diagnosis of pheochromocytoma, based on which patients are referred for surgical removal of the adrenal gland. However, false-positive results from these tests remain a problem and some patients are referred for adrenalectomy due to ...

Adrenocortical carcinoma is a rare malignant tumour that starts in the adrenal gland, accounting for 4% of all adrenal tumours. Functioning ACC can cause symptoms related to the overproduction of hormones and large tumours can press on nearby organs. Primary treatment for ACC tumour is surgery to remove the tumour, and may also include Chemotherapy or Radiation to stop the cancer cells from spreading. Therefore, more affective therapies for delivering therapeutics to the tumou...

Background: Iatrogenic adrenal insufficiency (AI) refers to primary, secondary, or tertiary hypoadrenalism associated with drug administration, surgery, or irradiation. The most common cause of secondary adrenal insufficiency is exogenous glucocorticoids. Hepatic metabolism of inhaled corticosteroids (ICS) takes place via cytochrome P450 3A4. Nevertheless, it can be decreased by enzyme inhibitors such as itraconazole or ritonavir, thus leading to an increase in the bioavailabi...

Background: Prolonged ingestion of licorice has been known to cause hypokalemia and resistant hypertension amongst other disturbances. This is due to glycyrrhizin that inhibits the 11-β-hydroxysteroid dehydrogenase enzyme type 2 which results into increased plasma cortisol levels that stimulate the mineralocorticoid receptors resulting into apparent mineralocorticoid excess.Case report: A 45-year-old woman resident in an iodine sufficient area, heav...

Background: Patients with Cushing’s syndrome (CS) typically show an alteration in the intrinsic coagulation pathway, leading to an increased risk of venous thromboembolism. Cortisol autonomy has been variably associated with higher risk of cardiovascular events and mortality compared to patients with non-functioning adrenal adenomas (NFA), particularly in women younger than 65 years. However, dedicated studies describing coagulation status in patients with adrenal inciden...

Background: Individuals with adrenal insufficiency (AI) receive life-long glucocorticoid (GC) replacement therapy (CGRT), which often exceeds normal daily physiological GC production, leading to detrimental effects on cardiometabolic parameters and bone health.Objective: Assessment of glucose, lipid and bone metabolism in AI postmenopausal patients in relation to the cause of AI and the CGRT dose.Methods: 114 AI postmenopausal wome...

Background: The hypothalamic-pituitary-adrenal (HPA) axis can be suppressed by long-term exogenous glucocorticoids, resulting in tertiary adrenal insufficiency (AI). International expert consensus suggests that during weaning, prednisolone be converted to hydrocortisone to allow HPA axis reactivation(1). There is, however, little evidence to support this practice.Aim: To compare HPA axis recovery during treatment with prednisolone and immediat...

Introduction: Bilateral Macronodular Adrenocortical Disease (BMAD) is a rare cause of Cushing syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 have been described by our group 10 years ago and are responsible for 20-25% of apparently sporadic BMAD cases and 80% of familial presentations. ARMC5 patients present with a more pronounced phenotype than wild-type patients, in terms of cortisol ...

Background: Adrenal insufficiency patient (AIP) care is mostly based on symptoms or clinical signs of inadequate glucocorticoid replacement treatment (GRT). Salivary cortisol (F) and cortisone (E) recently emerged as new tools for AIP management, although poorly employed in clinical practice.Aim: To assess associations between salivary glucocorticoid measures and life quality, anxiety depressive symptoms, sleep quality in AIP.Metho...

Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes leading to overlapping phenotypes. A genetic diagnosis is helpful to guide management and genetic counselling but can be challenging in resource limited settings where facilities for antibodies and genetic testing may be unavailable. Studies from Africa are rare but, in Sudan, the most common genetic aetiologies for PAI are congenital adrenal hyperplasia (CAH; mostly CYP21A...

Background: Adrenal incidentalomas are common and require investigation to exclude malignancy and evidence of hormone overproduction. Prospective screening programmes are essential for early detection of cancer but often lead to incidental findings which have potential health economic implications and may increase patient anxiety. With regards to investigation of incidental adrenal nodules, current national lung cancer screening recommendations are not in keeping with current ...

Backgorund: Adrenal incidentalomas (AI) are lesions discovered incidentally on imaging without clinical symptoms or examination findings. AI can produce hormones in 5-30% of cases. Autonomic cortisol secretion (ACS) is the most common of these. Although ACS is asymptomatic, it increases the risk of metabolic disorders.Methods: Patients aged ≥18 years with adrenal adenoma and upper abdominal MRI who presented and were examined in the endocrinology o...

Introduction: Non-alcoholic fatty liver disease (NAFLD) and Heart Failure with Preserved Ejection Fraction (HFpEF) are two syndromes with increasing clinical relevance, mainly due to the rising prevalence of metabolic syndrome. Despite sharing a common metabolic background, the association between NAFLD severity and HFpEF has not yet been well explored.Aim: To evaluate the association of NAFLD steatosis and fibrosis scores with cardiovascular function an...

Background: The risk and course of glucocorticoid-induced adrenal insufficiency (GIA) are unclear and current evidence is retrospective and based on small and selected study populations. However, the prevalence of glucocorticoid use is at least 3 %, which underscores the need for unbiased and prospective assessment of the prevalence and clinical consequences of GIA.Objectives: To identify biomarkers of GIA as regards diagnosis, prognosis and responsivene...

Most adrenal incidentalomas are benign and can be divided into nonfunctioning adrenal tumors (NFAT) and tumors with mild autonomous cortisol secretion (MACS). Several studies suggest that MACS may result in an increased risk for mortality and cardiometabolic disease. The cardiometabolic risk in MACS is possibly related to the increased frequency of cardiovascular risk factors such as diabetes mellitus (DM) and hypertension (HT) induced by cortisol excess. This is confirmed by ...

Background: The best lateralization method to ascertain cure after surgery in unilateral primary aldosteronism (PA) is debated. Risk of persistent of PA in those with non-classical adrenal histopathology remains poorly characterized.Objective: We examined the value of anatomical compared with functional subtyping and the significance of immunohistochemical analysis of CYP11B1 and CYP11B2 for the outcome and histopathological diagnosis of primary aldoster...

Background: Adrenal haemorrhage is a rare clinical presentation with an incidence of only 5 in 1,000,000 [1]. 10% of these are bilateral adrenal haemorrhages, which has very high mortality rate of 15 % [2]Case summary: 22 years old female had C-section for persistent to breech presentation at term. She has a history of preterm delivery due to chorioamnionitis during previous pregnancy. Patient had about 1.2L post-partum haemorrhage....

Introduction: Long term treatment with corticosteroids has been widely used, due to the well documented immunosuppressive and anti-inflammatory activity. Corticosteroids are among the most widely prescribed drugs in oncology and post-transplant patients. However, long-term treatment with a dose of corticosteroids, which equals prednisolone 5mg/day for at least 4 weeks, is very likely to result in suppressed function of the hypothalamic pituitary adrenal (HPA) axis, a condition...

Hypertension is associated with vascular changes characterized by endothelial dysfunction, increased vascular contraction, and arterial remodelling. Vascular smooth muscle (VSM) cells, which constitute bulk of vascular wall, are critically involved in these processes through their highly plastic and dynamic features and ability to undergo phenotypic differentiation. Stimulation of VSM cells by pro-hypertensive neurohumoral stimuli such as acetylcholine and norepinephrine, and ...

Angiotensin II (AngII) is a vasoactive peptide hormone and the effector of the renin-angiotensin-aldosterone system. It exerts its main physiological effects through type 1 angiotensin II receptor (AT1R), but it can also contribute to the development of cardiovascular diseases. Likewise, oxysterols such as 25-hydroxycholesterol (25-HC), the product of cholesterol-25-hydroxylase (CH25H), can have harmful effects on the vasculature since they affect vascular smooth muscle cells ...