Endocrine Abstracts

Introduction: Pheochromocytoma and paraganglioma (PPGLs) are rare neuroendocrine tumors. Some of them are catecholamine-secreting tumors responsible for hypertension or adrenergic symptoms. Among 10% are malignant with a higher rate of malignancy in the inherited syndromes. Management of patients with hereditary pheochromocytoma and PPGLs is well defined and standard treatment is surgical resection.Case report: We report the case of a 53-year-old man who...

The authors report the clinical case of a 59-year old female who had vague complaints of impaired vision, fatigue and diffuse pain for more than a year before medical evaluation at our hospital. At the ophthalmology appointment, bitemporal hemianopsia was evident. Brain MRI was the diagnostic test of choice and revealed a mass involving de sellar and suprassellar space, causing compression of the optic chiasm, as well as osteolytic lesions in cranial vault. The patient was the...

In the human adrenal gland, serotonin (5-HT), released by subcapsular mast cells stimulates corticosteroid secretion through activation of type 4 serotonin receptors (5-HT4R) positively coupled to cAMP/proteine kinase A (PKA) signaling pathway and calcium influx. The 5-HT4R is principally expressed in zona glomerulosa cells explaining why 5-HT strongly stimulates aldosterone production but only exerts a modest stimulatory action on cortisol. Interestingly, in primary pigmented...

Introduction: Inslinomas are the most common cause of hypoglycemia resulting from endogenous hyperinsulinism. Although rare, they have the potential to produce metabolic derangements, necessitating early diagnosis. The aim of our study was to determine the clinical manifestations, diagnostic methods, treatments used and results of patients with insulinoma.Patients and methods: It’s a retrospective study including 9 patients with insulinoma, diagnose...

Aim: Pregnancy and pheochromocytoma are an important clinical picture in which the mother and fetus are under threat. Herein, we present a case diagnosed with pheochromocytoma in the follow-up of fetal mortality and maternal pulmonary edema after emergency postnatal caesarean section.Case Report: Our case was a 32-year-old female, fetal distress was determined after hypertension and maternal hypoxemia in 26 weeks of gestation and emergency caesarean sect...

Introduction: Ten per cent of pheochromocytomas are malignant. Malign pheochromocytoma could cause metastasis, relapse and local invasion. The most common sites of metastasis for pheochromocytoma or extra-adrenal paraganglioma are lymph nodes, bones, lungs, and liver. Here, we present a case who had pheochromocytoma relapse and unusual peritoneal metastasis after 12 years of left adrenalectomy.Case presentation: A 38 year-old woman, who had left adrenale...

Introduction: Adrenal tumors present with clinical features and signs unique to their specific hormonal hypersecretion. Among adrenal tumors, oncocytic pheochromocytomas are exceedingly rare tumours. We report an unusual clinical presentation of an adrenal cortical tumor with histologic features of an oncocytic pheochromocytoma.Case Report: We present a case of a 64-year-old man with moderate hypertension, type 2 diabetes and an incidental adrenal mass o...

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (‘café au lait’ macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and bone lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine ...

Introduction: Given their prevalence of up to 5% of the general population, A discovery of an asymptomatic adrenal mass (incidentaloma) during the investigation of an unrelated condition is relatively common. The issue of crucial importance is the histopathological differentiation between benign lesions and malignant tumours of the adrenal gland.Objective: To evaluate the secretory or non-secretory profile and the benign and malignant nature of incidenta...

Background: Oncocytic neoplasms are rare adrenal tumours usually considered as benign and non-functional. Conversely, in recent large nationwide study from COMETE network over 50% of the oncocytic adrenocortical tumours were diagnosed as carcinoma according to Lin Weiss-Bisceglia-score. However, until now only 11 cases of metastatic oncocytoma were reported in English literature.Case report: A 54-year-old man with history of abdominal pain and weight los...

Introduction: Addison’s disease was first described in 1855 by Thomas Addison as a result of adrenal insufficiency. It is most common in females aged 30–50 years. Symptoms are often non specific.Weakness and weight loss are universal features of Addison’s disease. It can present to a dermatologist in different ways. We present a case of a young female who reported to dermatology outdoor with a typical melasma-like eruption over her face.Ca...

Introduction: Pheochromocytoma associated with pregnancy carries a great risk for adverse fetal and maternal outcome, especially when the diagnosis is missed. Symptoms can present in a wide variety regarding intensity and duration, making it difficult for the treating midwife or obstetrician to draw correct conclusions.Clinical Case: We present a case of a 29 years old patient whose third pregnancy was complicated by short, but frequent and intense spell...

Background: Laparoscopic adrenalectomy (LA) is the standard treatment for benign adrenal tumours but its role in the surgical management of adrenocortical carcinoma (ACC) is controversial. Therefore, the aim of this study was to compare long-term outcome between open adrenalectomy (OA) and LA in the treatment of primary ACC.Methods: This retrospective cohort study included patients with ACC ENSAT stage I-III referred to the Croatian referral centre for a...

Objectives: To evaluate the prevalence in our work center of pathology of adrenal glands and to assess the efficacy of the radiology imaging in the detection of especific features and to exclude malignancy lessions.Material and Methods: We included patients who presented some adrenal lesion with histological study after surgerie between January 2010 and December 2015 in the hospitals of Albacete, Almansa and Villarrobledo. We use the Pathological Anatomy...

Introduction: The French National Institute of Cancer (INCa) launched supported by the Ministry of Health in 2008 a program for the recognition of national networks for the management of rare cancers. Among the 23 selected networks COMETE-Cancer was recognized by INCa in 2009 for Adrenocortical carcinoma (ACC) and malignant pheochromocytoma/paraganglioma (MPP). At that time 60–120 new ACC/year and 30 new MPP/year were expected at the national level....

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that result from the deficiency of one of several enzymes involved in the steroidogenic pathway for cortisol biosynthesis. The most common cause of CAH, accounting for 90% of cases, is 21-hydroxylase deficiency. The symptoms of disease very depending on the nature and severity of the enzyme deficiency as well as the sex of the individual. Non-classical CAH is generally late onset. Ho...

Introduction: Adrenal incidentalomas are frequent, their prevalence reaches 5% of the general population, incidental diagnosis from an imaging examination motivated by an extra-adrenal sign is common. Diabetes may be present in patients with adrenal incidentaloma, it is often diabetes secondary to secretion of cathecholamines, mineralocorticoids and cortisol.Objective: To evaluate the clinical-biological profile of adrenal incidentalomas, as well as thei...

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary autosomal dominant syndrome, caused by activating germline mutations in the RET proto-oncogene. Medullary thyroid carcinoma (MTC) remains the most common and aggressive manifestation of MEN2. The family case of MEN 2 syndrome in Belarussian population is analyzed. During the analysis of the records of clinical case of patient’s death in the reginal hospital because of thrombosis of mesenteric vessels and acut...

Introduction: Adrenal cystic lesions are rare. Differential diagnoses include pseudocysts, echinococcal cysts, hemangiomas, cystic pheochromocytomas, adrenal hematomas and lymphangiomas. We present here a rare case of an adrenal lymphangioma.Case report: A 35-year old man was referred to our department for investigation of a right adrenal cystic mass, incidentally found during an abdominal ultrasound. The patient was completely asymptomatic and had a med...

Introduction: Cells of the neuroendocrine system are spread throughout the body, and they can give rise to various neuroendocrine tumors with unpredictable evolution. It has been observed that they are often associated with the development of fibrosis, both local and distant.Case presentation: We present the case of an 81 year-old, normal-weight woman, who firstly presented in our clinic in 2014 for multinodular goiter (normal calcitonin). Fine needle as...

Introduction: Familial Mediterranean Fever (FMF) is an autosomal recessive hereditary disease characterized by fever and inflammation of serous membranes. The most important complication of FMF is amyloidosis which has significant role in the prognosis. It is unclear how endocrine system hormones are affected in FMF. We present adrenal insufficiency in a an FMF patient without amyloidosis.Case: A 39 years old male patient who had been diagnosed with FMF ...

Introduction: Somatostatin analogues (SSAs) are the mainstay of treatment for carcinoid syndrome (CS)-related symptoms. Controversy still exists regarding the extent of the efficacy of this intervention. The purpose of the systematic review and meta-analysis was to evaluate the percentage of patients achieving partial (PR) or complete response (CR) with the use of SSAs (lanreotide, octreotide, pasireotide) in patients with CS. Due to lack of uniformity and established criteria...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene and is characterized clinically by tumors in two or more endocrine glands, such as the pituitary gland, parathyroid glands or pancreatic islets. We describe an atypical presentation of familial hyperparathyroidism evoking the diagnosis of MEN1 in the first place.Observations: We report a three-member family....

Introduction: Addison’s disease is a rare disorder, described mainly in isolated cases. The two most common cause of primary adrenal insufficiency are autoimmune adrenalitis and adrenal tuberculosis, which is still the primary cause of primary adrenal insufficiency (PAI) in developing countries. Adrenal tuberculosis is difficult to diagnose, the classic presentation with non specific symptoms delay the diagnosis. In some cases, the background of tuberculosis and hyperpigm...

Background: Functional studies demonstrate that Armadillo repeat-containing 5 (ARMC5) gene, controls apoptosis and steroid synthesis. A germline mutations in ARMC5 are recently been associated with Cushing syndrome and possibly can be responsible for a broader tumor predisposition.Case presentation: A 51-year-old woman presented with intermittent rectal bleeding. A colonoscopy revealed multiple colonic polyps, histopathological analysis showed tubular ad...

Introduction: Adrenocortical carcinoma (ACC) is a rare tumor with an aggressive prognosis of 1–2 people per million per year. They are functional tumors which mostly occur with virilization and/or Cushing syndrome. Metastatic ACC has a dismal prognosis and the most common sites of metastases are the lung, liver, lymph nodes and bones. Herein, we present metastatic ACC patient without Cushing clinic at the time of diagnosis.Case presentation: A 48-ye...

Retrospective study of patients with metastatic/progressive pheochromocytoma (PCC) and paraganglioma (PGL) treated with (131) I MIBG in our hospital during 2015–2018 period.Methods: There are no established criteria for establishing PCC/PGL as malignant apart from de presence of metastases at diagnosis. Radionuclide therapy (131) I-metaiodobenzylguanidine (MIBG) is frequently used in this patients when surgery is not possible. Indication of MIBG tre...

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Introduction: Adrenal incidentalomas (AIs) are defined as adrenal masses measuring 10 mm or more in diameter, incidentally discovered on imaging exams performed for a non-adrenal disorder. The aim of this study is to provide a clinical and imagiological characterization of patients diagnosed with AIs followed in our institution.Methods: We conducted an observational and retrospective study that included patients with AIs evaluated at our institution betw...

Introduction: Paragangliomas (PGL) are rare tumours of neuroendocrine origin. Those localized in urinary bladder account for 10% of all PGL. They arises from chromaffin tissue of the sympathetic nervous system that is embedded in the muscle layer of the bladder wall. Approximately 10% of urinary bladder paragangliomas are malignant.Case presentation: A 76-year-old female presented with a history of haematuria, hypertension, headaches and excessive sweati...

Introduction: Hypothalamic-pituitary-adrenal axis dysfunction (HPA) has been reported in patients with schizophrenia and bipolar disorders but findings are inconsistent and few studies have conducted direct comparaisons of HPA biomarkers in drug native patients. We aimed to assess serum and salivary cortisol in the morning in drug-naive schizophrenic patients compared to controls.Methods: This was a cross-sectional case-control study conducted between Ju...

Pancreatic neuroendocrine tumours are rare with an incidence of 5 per million. Of these tumours, 75% maybe hormonally functioning. They carry a better prognosis than adenocarcinoma of the pancreas. Parathyroid Hormone related peptide hypersecretion in PNETs is uncommon and is solely associated with metastatic PNETs. 31 cases are reported of PTH-rPoma in the literature. Here we describe a novel case presenting with cough. A previously well 56-year-old female presented to the ac...

Introduction: Pheochromocytoma occurs in 0.1–5.7% of patients with Neurofibromatosis type 1(NF1). We report two cases of adrenal pheochromocytoma in patients with NF1.Observation: A 46 year-old male was admitted to our department for further examinations of an adrenal mass. The CT-scan showed two well-defined right adrenal masses measuring each 128×87×86 mm and 60×52×37 mm with central necrosis and calcifications in the biggest o...

Background: Iatrogeny is the most common cause of Cushing syndrome (CS), with most reported cases due to prolonged use of oral, parenteral or, rarely, topical corticosteroid preparations. Few cases of CS (and consecutive adrenal insufficiency (AI)) due to intranasal corticoids have been reported and the vast majority were documented in pediatric patients.Case reports: We present two cases of iatrogenic CS due to chronic intranasal administration of over-...

Introduction: Adrenal myelolipoma is a rare, benign, non-secreting tumor, often found incidentally or in the context of abdominal pain. We report the cases of two patients with adrenal myelolipoma hospitalized at the endocrinology department of diabetology and metabolic diseases of Ibn Rochd University Hospital in Casablanca.Case 1: This is a 30-year-old patient, hospitalized for adrenal mass, revealed by right lower back pain, radiating to the right hyp...

Introduction: Adrenocorticalcarcinoma (ACC) is a rare malignancy with an aggressive prognosis, an incidance of 1–2 cases/million/year. It is the cause of 0.2% of all cancer deaths. It is seen in the 4th and 5th decades in adults and mostly unilateral and sporadic. Herein, we present a case of sarcomatoid type ACC which is symptomatic with mass compression and hypertansive attacks.Case presentation: A-52-year-old male was referred to our endocrinolog...

Introduction:: The association of breast cancer and neuroendocrine tumours, in particular pheochromocytoma, is rarely described in the literature. We report a case in a particular context.Observation: This is a 53-year-old patient treated with 6 courses of chemotherapy for T2N3cM0 infiltrating breast carcinoma. She was admitted to our endocrinology department for exploration of a left adrenal incidentaloma, objectified in the extension assessment, measur...

Introduction: Paragangliomas are rare neuroendocrine tumors usually Benign, developed at the expense of sympathetic ganglia, and whose treatment is essentially surgical. We report the case of a patient presenting a cervical paraganglioma hospitalized to the endocrinology department of diabetology and metabolic diseases of Ibn Rochd University Hospital in Casablanca.Observation: A 57 years old women, not known hypertensive, presenting a mandibular mass ev...

Introduction: Primary hyperaldosteronism (PH) is characterized by autonomous adrenal aldosterone (A) hypersecretion. Unilateral adrenalectomy is the treatment of choice, when adrenal vein sampling (AVS) indicates lateralization of A secretion. To assure that each adrenal vein (AV) has been correctly sampled, cortisol levels in each adrenal vein must be higher than in the inferior vena cava. The adrenal gland cortisol/vena cava cortisol ratio is referred to as the selectivity i...

Introduction: With the advent of modern imaging, up to 30% of adrenal pheochromocytomas are discovered incidentally in asymptomatic patients. Smaller tumors may be ‘pre-biochemical’ in their secretory capacity, but truly nonfunctioning tumors over 3 cm are exceedingly rare. We describe a case of a clinically and biochemically silent pheochromocytoma.Case report: A 65-year-old woman was found to have a left adrenal incidentaloma on an abdominal ...

Introduction: PGs are rare neuroendocrine tumours (NETs), slowly growing, derived from the neural crest cells of the autonomous nervous system. Presenting symptoms are related to catecholamine hypersecretion or to mass effect. The optimal approach is dictated by size, symptoms and anatomical relationship of tumours with neurovascular structures.Aim: To describe a patient with bilateral carotid body and mediastinal carotid body PGs....

Introduction/Aim: Secondary hypertension is often undiagnosed or misdiagnosed as essential in young people. We hereby present a challenging case, in order to raise awareness about this problem.Material and methods: Review of the patient’s clinical record and of the relevant literature.Results: A previously healthy 22 year old woman complained of frequent non-pulsatile holocraneal headaches for 6 months; they were attributed to...

Introduction: The discovery of a pheochromocytoma during pregnancy is very rare. The diagnostic and therapeutic approach determines the maternal and fetal prognosis. We present the case of a pheochromocytoma discovered during a pregnancy of 16 weeks of amenorrhea.Case report: Mrs. A.H 29 years old, primigravida, presented at 6 weeks of amenorrhea with hypertension, she was treated by alpha methyl dopa 500mg and nicardipne 20 mg; at 16 weeks she was hospi...

Introduction: Adrenal surgical series are scarce in the literature. We aim to present a single institution consecutive case series and to establish a radiologic-pathological correlation.Material and methods: A retrospective, observational and descriptive study was conducted by searching the Pathology database for surgically removed adrenal lesions. Cases were matched with the Imagiology database. Ultrasound, CT and MRI images were then reviewed by the sa...

Introduction: Von Hippel-Lindau disease (VHL) is a hereditary condition that predisposes to the development of benign and malignant tumors due to mutations in the VHL gene. Several clinical manifestations can be observed including the development of hemangioblastomas of the central nervous system and the retina, renal or pancreatic cysts or cancers, or more rarely pheochromocytomas. These affect 10 to 25% of patients, are frequently bilateral and often reveal the disease.<...

Introduction: Adrenal gland involvement can be seen in about 25% of lymphomas. However, primary adrenal lymphomas (PAL) are rare. The most common is diffuse large B-cell lymphoma (DLBCL). It is seen usually after the age of 60 years as bilateral, large masses.Case report: A 64-year-old woman with a complaint of abdominal pain was referred to our clinic after bilateral surrenal masses were detected upon abdominal ultrasonography (USG) and computed tomogra...

Background: Resource-saving and medically safe investigations of adrenal incidentaloma (AI) is one of the challenges in modern endocrinology. The absolutely majority of AIs are benign and hormonally inactive. Mild hypercortisolemia is the most common finding in hormonally active AI and is often referred to as subclinical Cushing syndrome (SCS). SCS is associated with increased risk of type 2 diabetes, poorly regulated hypertension, osteoporosis and cardiovascular disease. Ther...

Phaeochromocytoma in pregnancy is an extremely rare condition. Early recognition can largely decrease maternal and fetal mortality rates. As symptoms of phaeochromocytoma are similar to those of other more common causes of hypertension during pregnancy, timely diagnosis is a challenge. There is no consensus in literature about the specific treatment nor about the optimal delivery timing or route. Case of a 32 years old woman with a single pregnancy of 30 weeks and 3 days admit...

Aim: Description of a series of children and adolescents with Primary Aldosteronism (PA) diagnosed and treated in our Outpatient Hypertension Clinic from 1994 to 2018.Methods: Review of the clinical records and of the relevant literature. Values are given as mean +s.d.Results: 16 of a total of 49 patients younger than 20 years of age referred to our Hypertension Clinic from 1994 to 2018 were diagnosed of PA (33%), while 27 (55%) we...

Introduction: Clinicopathological characterisation ofneuroendocrine neoplasms could provide improved prognostic information even at the time of the diagnosis.Objectives: The aim of this study was to characterise the clinicopathological features of a large cohort of patients with neuroendocrine neoplasms (NENs).Patients and methods: The study included 210 patients (95 men and 115 women) with histologically confirmed and verified neu...

Introduction: Pheochromocytomas (PHEOs) are tumors arising from medulla chromaffin cells. Their diagnosis is challenging due to a large clinical spectrum – from classical crisis to completely asymptomatic. Approximately 5.0–6.5% of adrenal incidentalomas are pheochromocytomas, and 8% of pheochromocytomas are completely asymptomatic, usually in a familial form.Aim: To compare biochemical and imagistic features of symptomatic/asymptomatic PHEOs.<...

Introduction: Primary aldosteronism (PA) accounts for 20% of patients with resistant hypertension and is one of its leading causes. Options of treatment include adrenalectomy and mineralocorticoid receptor antagonists (MRAs). Latest studies suggest that both may paradoxically lead to a decline in estimated glomerular filtration rate (eGFR), explained by the masked glomerular hyperfiltration associated to PA before treatment.Case report: A 56 years old ma...

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, characterized by deficient beta-oxidation of saturated very long chain fatty acids (VLCFA). The accumulation of VLCFAs is associated with demyelination of the nervous system, and impairment of steroid hormone synthesis in the adrenal cortex and the testis. The range of phenotypic expression is wide and dynamic. The three presentations most commonly seen are the childhood cerebral forms, a...

Introduction: The widespread use of highly-active antiretroviral therapy (HAART) has drastically improved the life expectancy of patients with human immunodeficiency virus (HIV) infection. However, many of these drugs show multiple interactions with other treatments; protease inhibitors (PI) are especially troublesome as they interact with the hepatic cytochrome P450. There have been previous reports of both Cushing’s syndrome and adrenal insufficiency in patients treated...

Background: Primary adrenal Non Hodgkin Lymphoma (NHL) accounts for less than 1% of all NHL cases. Among them, Diffuse Large B Cell Lymphomas (DLBCL) are the most commonly identified. Seventy percent of cases are bilateral and adrenal insufficiency usually occurs. Here we describe a case of a DLBCL with bilateral adrenal involvement and adrenal insufficiency.Clinical case: A 68 years male with a personal history of malaria, asthma, hypertension and chole...

Context: Surgery performed in primary hyperaldosteronism (PAH) can achieve biological healing in almost all cases, but blood pressure healing is only obtained in 20 to 55% of cases. The aim of our study is to identify the anthropometric, biological and pathological factors that would be statistically associated with blood pressure outcome in patients after unilateral adrenalectomy for primary aldosteronism between 1996 and 2016.Method: This is a monocent...

Introduction: The discovery of a pheochromocytoma during pregnancy is very rare. The diagnostic and therapeutic approach determines the maternal and fetal prognosis. We present the case of a pheochromocytoma discovered during a pregnancy of 16 weeks of amenorrhea.Case report: Mrs. A.H 29 years old, primigravida, presented at 6 weeks of amenorrhea with hypertension, she was treated by alpha methyl dopa 500mg and nicardipne 20mg; at 16 weeks she was hospit...

Introduction: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia, characterized by simple virilizing or salt wasting forms. The saline loss picture develops after birth and it can evolve in a short time to a severe picture of hypotonic dehydration and hypovolemic shock with lethal consequences if not diagnosed and treated. Herein we present an unusual case of classic 21-OHD CAH ...

Introduction: Juxtaglomerular cell tumour (JCT) or Reninoma, is a rare cause of curable secondary hypertension, usually presented as a small renal tumour and treated by tumorectomy or partial nephrectomy (PN). Minimally invasive treatment such as percutaneous radiofrequency ablation (PRFA) has gained popularity over the last decade to treat small tumors. We report the case of a woman with secondary hypertension due to JCT, successfully treated with PRFA....

Somatostatinomas are rare neuroendocrine tumors diagnosed at a rather young age (mean age at diagnosis from 40 to 60 years). Non-auto-immune diabetes may associate with somatostatinoma as a result of abnormal somatostatin secretion, which inhibits insulin release. Steatorrhea and cholelithiasis are two other classical symptoms of these tumors. Here we report a case of somatostatinoma discovered while exploring a recently diagnosed diabetes, whose clinical and biological featur...

Adrenocortical cancer is a rare, aggressive disease, requiring a fast and multidisciplinary approach. The genetics is heterogeneous so is also the clinical course. In the last 10 years, we have diagnosed and treated a number of 20 cases, aged at diagnosis between (34–74 years) (mean 55.9±12.87), followed up between (2–77 months) (mean 25.75±23.58). The maximal diameter of the tumor was (5.5–25) (mean 10.95±5.43). The secretion profile was Cushing ...

Introduction: Ephrin receptors (EPHs) have a role in tumor growth, invasion, angiogenesis and metastasis of several neoplasms. Aim of the study was to investigate the expression and possible clinical significance of EPH-A4 and EPH-A2 protein expression in the pathophysiology of neuroendocrine neoplasms (NENs).Methods: EPH-A4 and -A2 protein expression was assessed by immunohistochemical analysis along with Ki-67 proliferation index (%) on 28 paraffin emb...

Background: Multiple endocrine neoplasia type 1 (MEN1) (OMIM 131100) is an autosomal dominant disorder associated with a high risk of developing parathyroid hyperplasia (90%), digestive neuroendocrine tumors (30–70%) and pituitary adenomas (30-40%). Prevalence of MEN1 is 2-10/100.000, there are no differences between men and women and usually, it is diagnosed before 40 years old. It is related to different mutations of the MEN1 tumour-suppressor gene (OMIM: 613733) which ...

Introduction: Multiple endocrine neoplasia type 1 syndrome (MEN1) is a hereditary autosomal dominant disorder caused by germline mutations in the MEN1 tumour-suppressor gene and is typically characterized by parathyroid adenomas, duodenopancreatic neuroendocrine tumors (NETs) and pituitary adenomas. Breast cancer has recently been identified as manifestation of MEN1 and female patients have early onset elevated breast cancer risk.Case report: Female pati...

A 42 year old lady presented to the Endocrinology clinic with a longstanding history of exertional dizziness, increasing in frequency over the preceding two months. She reported marginal symptomatic improvement with the introduction of frequent carbohydrate rich meals. She was asymptomatic in the post-prandial period. She had no associated nausea, confusion, palpitations, diaphoresis, collapse or weight gain. She was on medication (SSRI) for anxiety. Her father and paternal gr...

Introduction: Although computed tomography (CT) is the best mean to identify adrenal neoplasms there is still controversy of the concordance of the estimated radiological and histological size of the lesion. Since the size of adrenal tumours is a major criterion for surgical excision, we investigated whether recent and more sophisticated imaging techniques, can more accurately predict tumor’s size.Methods: We have retrospectively analyzed a series o...

Aim: Metabolic syndrome rates have been studied especially in adrenal gland secreting cortisol and studies on nonfunctional adenomas are limited. In this study, we investigated metabolic parameters and metabolic syndrome frequency in non-functional adrenal adenomas (NFA).Materials and methods: In our study, 55 patients (15 men (27.3%), 40 women (72.7%) who were diagnosed incidentally, unilateral or bilateral localized, hormone-inactive, and with adenoma-...

The diagnosis of subclinical hypercortisolemia in patients with incidental adrenal tumors remains a challenge, as there are no unambiguous criteria for diagnosis. The discovery of a substance whose secretion increases under the influence of cortisol would make it easier to make therapeutic decisions. Hypercortisolism causes a change in the distribution of adipose tissue, so it can be assumed that it also affects secretion of proteins secreted by adipocytes (adipokines). The ai...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is associated with an increased cardiometabolic risk in adult life. Nevertheless, data regarding pediatric age is scarce. We aimed to evaluate cardiometabolic risk factors in patients with CAH due to 21-hydroxylase deficiency in pediatric age.Methods: We reviewed the clinical records of patients with CAH evaluated in a Pediatric Endocrinology Unit in a central hospital. Pat...

Neuroendocrine tumors (NETs) includes a broad family of tumors, the most frequent ones are in the gastrointestinal tract, lung, thymus, and pancreas. Gas-trointestinal and Pulmonary NETs may present with symptoms attributable to hormonal hypersecretion, which include intermit-tent flushing and diarrhea, or symptoms related to Cushing Syndrome. The variability of clinical manifestation may lead to late referral or misdiagnosis. In this retrospective study we analyzed 27 patient...