Endocrine Abstracts

Multiple endocrine neoplasia (MEN) includes a group of autosomal dominant disorders, associated with the development of a variety of endocrine and non-endocrine manifestations. MEN4 is a rare and the latest reported type in the spectrum of the MEN syndromes. MEN4 was discovered initially in rats (MENX) and later in humans. It is caused by germline and somatic mutations in the cyclin-dependent kinase inhibitor 1B (CDKN1B) tumor suppressor gene, which encodes nuclear protein p27...

Background Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, various MODY subtypes have been reported, each one of a distinct genetic etiology. Materials and methods A total of 114 patients of Greek orig...

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of enzymatic defects in cortisol biosynthesis resulting in adrenal hyperplasia through chronic compensatory ACTH stimulation. Aldosterone synthase deficiency, however, is associated with normal cortisol secretion and there are no reports on whether it may be associated with adrenocortical hyperplasia.Case Presentation: A 37-year-old, Greek female was referred for further investigation...

Background: Congenital Hyperinsulinism (CH) or, as previously named, Hyperinsulinemic Hypoglycemia (HH), constitutes a major cause of persistent and recurrent hypoglycemia, especially in the neonatal period, showing notable phenotypical heterogeneity among affected subjects. Mutations in genes implicated in insulin release, represent the majority of the cases of CH. Activating mutations of the Glucokinase gene (GCK) are responsible for mild forms of hypoglycemia usual...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by autosomal dominant inheritance, early onset diabetes, defect in the β-cell insulin secretion, positive family history, absence of diabetic ketoacidosis, auto-antibodies and insulin resistance. To date, 14 different MODY subtypes have been reported each one with distinct genetic etiology, however MODY patie...

Introduction’Maturity-onset diabetes of the young’ (MODY) constitutes a group of clinically and genetically heterogeneous monogenic forms of diabetes, characterized by beta-cell dysfunction. It describes an autosomal dominantly inherited disorder, caused by mutations in different genes, characterized by noninsulin-dependent diabetes commonly diagnosed at a young age. Fourteen MODY subtypes have been reported, often misdiagnosed as type 1 or 2 d...

Introduction: Paragangliomas are rare neuroendocrine neoplasms originating from the chromaffin cells of the neural crest and projecting from the extra-adrenal paraganglia. For more than 30% of patients with paragangliomas there is a genetic predisposition. According to W.H.O. paragangliomas should be treated as potentially metastatic diseases. We describe the case of a patient with a paraganglioma and a pathogenic variant in the SDHB gene.Case Presentati...

Background: Monogenic Diabetes is relatively rare, representing only 1–2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as Type 1 Diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members.Methods: Case report.Results: We describe a case of a young patient who presented with hyperglycemia in the absence of ketosis and following genetic testing, he proved to h...

Background CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however 85% of the cases remain with unknown molecular aetiology.Patient and methodsA newborn boy (46, XY) delivered by CS due to IUGR with a birthweight of...

Introduction: Mutations in the variable number of tandem repeats (VNTR) region of the carboxyl-ester lipase (CEL) gene can cause a very rare type of maturity-onset diabetes of the young (MODY 8) characterized by insulinopenic diabetes mellitus (DM) in early adulthood and slowly progressive exocrine pancreatic dysfunction. We present the unusual case of a patient with heterozygosity in a variant of CEL outside the VNTR region suffering from DM, dyslipidemia and exocrin...