ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...

Background: GNRHR gene mutations are responsible for development to normosmic idiopathic hypogonadotropic hypogonadism (iHH) and known to be the most frequent cause of this condition. Nevertherless, the reported frequency of GNRHR mutations in iHH patients estimated to be as low as 3-6%.Objective: To evaluate the frequency of GNRHR gene defects in a heterogeneous group of Russian patients with iHH and described the p...

Introduction: The heterozygous activating mutations in the KCNJ11 and ABCC8 are the commonest causes of permanent neonatal diabetes mellitus (PNDM). The most severe clinical form of NDM is DEND syndrome. Besides diabetes mellitus such patients show severe developmental delay, hypotonia and therapy-resistant epilepsy. To our knowledge only some cases of DEND syndrome due to ABCC8 mutations are sulfonylurea-responsive. Here we report case of DEND syndrome due t...

Background: Neonatal diabetes mellitus (NDM) comprises a group of monogenic disorders caused by mutations in genes involved in pancreatic development or insulin secretion. Accurate and rapid molecular diagnosis of NDM is pivotal for making decision on the treatment strategy. Next-generation sequencing (NGS) allows simultaneos analysis of several candidate genes, which facilitates the diagnostic procedure in NDM.Objective and hypotheses: To summarise our ...

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a monogenic autoimmune disease caused by defects in autoimmune regulator gene (AIRE). The classic clinical triad is composed of Addison disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, however other endocrine and non-endocrine features of APS1 may occur.Objective: To describe an unusual clinical manifestation of APS1.Methods: Congenital lipodystrophy ...

Background: Proopiomelanocortin (POMC) deficiency is characterised clinically by adrenal insufficiency, obesity and red hair. As a rule, such patients present early in life with severe hypoglycemia, which leads to initiation of glucocorticoid therapy. We describe here a case of POMC deficiency, where adrenal insufficiency was not diagnosed until the fourth year of life.Objective and hypotheses: To present a case of late diagnosis of POMC deficiency and c...

Introduction: Congenital hyperinsulinism (CHI) is a rare but severe condition causing persistent hypoglycaemia. Approximately 30-40% of patients require surgical treatment. Extent of surgery depends on the histological form of the disease: subtotal pancreatectomy is done in diffuse CHI, whereas pancreatic resection is recommended in focal CHI.18F-DOPA PET scan is a gold-standard imaging technique that helps in differential diagnosis of diffuse and f...