ESPE Abstracts

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

Objective: To characterise clinical presentation of congenital isolated ACTH deficiency.Methods and results: Clinical and anthropometric data were obtained. Biochemical liver function parameters, blood glucose, insulin, TSH, free thyroxin (FT4), GH, cortisol, and ACTH levels were analyzed. POMC and TBX19 genes were analysed by Sanger sequencing. The girl was born at full-term with normal weight and length. The parents are cousins. At birth cra...

Background: An accurate and comprehensive assessment of steroid hormones is pivotal for differential diagnosis of disorders of sex development (DSD) 46,XY, a part of which may be due to defects of testosterone biosynthesis.Objective and hypotheses: To describe and characterise a case of DSD 46,XY presented with unusual serum steroid profile.Method: Serum steroid hormones were analysed by liquid chromatography-tandem mass spectromet...

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. Taking info account the latest advances in HR therapy, it now becomes of interest to better define the mutational and phenotypic spectra of disease.Objective and Hypotheses: The aim of this study was to clinically characterize and perform genetic analysis of 168 cases with HR.<p class="a...

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. To date more than 10 genes are associated with HR, and a comprehensive molecular diagnosis in these disorders is technically difficult to perform.Objective and hypotheses: To assess the value of targeted next-generation sequencing (NGS) used for molecular analysis of candidate genes of HR.Method: 64 pa...

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...