hrp0089p1-p089 | Diabetes & Insulin P1 | ESPE2018

Features of T2DM in Adolescents with Low Titer of ICA and IAA

Eremina Irina , Kuraeva Tamara , Zilberman Lubov , Peterkova Valentina

Purpose: To assess the prevalence of pancreatic autoantibodies (Ab) and their impact on the course of type 2 diabetes mellitus (DM2) in adolescents.Materials and methods: ICA, GADA, IA-2 and IAA were measured in 66 patients with DM2. Depending on the presence of autoantibodies (Ab) patients were divided into 2 groups: Ab- and Ab+. HLA-typing was carried out in 45 patients. The secretion of C-peptide in the standard carbohydrate brea...

hrp0097p1-245 | Diabetes and Insulin | ESPE2023

Combination of mutations in the HNF1A and ABCC8 genes: clinical polymorphism in members of the same family.

Eremina Irina , Raykina Elizaveta , Titovich Elena , Peterkova Valentina , Laptev Dmitry

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea. Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of 13 mmol/l was detected. Insulin therapy was not prescribed due to the parent’s refu...

hrp0097p1-544 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Clinical and laboratory characteristics of arginine vasopressin resistance and high carrier frequency of a novel homozygous variant p.R113C in the AQP2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: Congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. About 90% cases nephrogenic diabetes insipidus is an X-linked recessive disorder caused by variants in the AVP V2 receptor gene (AVPR2). In the remaining cases (10%) the disease is autosomal recessive or dominant and, for these patients, variants in ...

hrp0097p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

High carrier frequency of a splicing c.589G>A variant in the SRD5A2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Kalinchenko Natalia , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...