hrp0092p2-250 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

High Prevalence GnRH Receptor Mutations in Russian Patients with Idiopathic Hypogonadotropic Hypogonadism

Frolova Elena , Makretskaya Nina , Kalinchenko Natalya , Kolodkina Anna , Zubkova Natalya , Petrov Vasiliy , Vasilyev Evgeniy , Tiulpakov Anatoly

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...

hrp0082p3-d1-902 | Pituitary | ESPE2014

A Case of Congenital Isolated ACTH Deficiency due to tbx19 Gene Mutation

Kazachenko Natalya , Tiulpakov Anatoly , Skorodok Yulia , Ivanov Dmitry , Mullakhmetova Zukhra

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...

hrp0084p3-1168 | Puberty | ESPE2015

Endocrinopathies in a 17-Year-Old Girl with Diamond–Blackfan Anemia and Transfusion-Associated Iron Overload

Ilyina Elena , Papusha Ludmila , Smetanina Natalya , Gvozdev Alexey

Background: Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, which presents with anemia in early infancy. Survival depends on blood transfusions, which in consequence lead to iron overload (IOL). The most common complications of IOL are hepatic cirrhosis, endocrinopathies and cardiomyopathy.Results: We present the case of 17 years old girl with DBA and IOL-associated endocrinopathies. Her treatment consists of multiple blo...

hrp0092p1-69 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Molecular Mechanisms of Idiopathic Ketotic Hypoglycemia in Children

Ivannikova Tatiana , Milovanova Natalya , Zakharova Ekaterina , Gubayeva Dilyara , Kareva Maria , Melikyan Maria

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

hrp0094p2-192 | Fat, metabolism and obesity | ESPE2021

Exercise-induced expression of myokines in adolescents with simple obesity.

Kasyanova Yulia , Vasyukova Olga , Okorokov Pavel , Bezlepkina Olga , Peterkova Valentina , Malysheva Natalya ,

Myokines - biologically active proteins produces and secretes by skeletal muscles in response to physical activity (PA). They play a role in lipid and glucose metabolism, myogenesis and osteogenesis, thermogenesis activity. Exercise-induced expression of myokines in adolescents with simple obesity insufficiently studied.Objective: to determine which intensity and duration of PA maximally changes the level of myokines (interleukin-6 (IL-6...

hrp0084p2-294 | Diabetes | ESPE2015

The Prevalence of Different Subtypes of Maturity-Onset Diabetes of the Young in Russian Federation as Defined by Targeted Next-Generation Sequencing

Zubkova Natalya , Gioeva Olesya , Tichonovich Yulia , Petrov Vasily , Vasilyev Evgeny , Malievsky Oleg , Kiyaev Alexey , Timofeev Alexey , Tiulpakov Anatoly

Background: Among the currently known variants of maturity-onset diabetes of the young (MODY) subtypes 1–3 are the most prevalent, while their relative frequencies vary in different populations. Other types of MODY are more rare, although the studies addressing their prevalences are limited. Recent implementation of next-generation sequencing (NGS) enables simultaneos analysis of multiple candidate genes making it an attracive approach in various monogenic disorders, incl...

hrp0086p2-p492 | Fat Metabolism and Obesity P2 | ESPE2016

Trends of Nutrition of Ukrainian Children from Kharkiv Region: Tendency to Overweight, Dehydration, Impaired Social Adaptation

Chaychenko Tetyana , Rybka Olena , Georgievska Natalja , Buginskaya Nadija

Background: Diabetes, acute cardiovascular events and lifelong psychological problems reflect the obesity burden. Nutrition is a key point in prophylaxis and management of overweight and there is important to know trends of nutrition to build interventional strategies.Method: There are 1021 healthy lean (LH) and 372 obese (OW) adolescents aged 10–17 y.o. were survived with original questionnaire, which also included social and psychological (Beck-Yo...

hrp0082p2-d1-326 | Diabetes | ESPE2014

Trends in Incidence and Prevalence of DM Type 1 in Children in Ukraine During 2002–2012

Globa Evgenia , Zelinska Nataliya

Background: The aim of the study was to describe the incidence and prevalence trends of diabetes mellitus (DM) type 1 in children of different age groups in Ukraine during 2002–2012.Objective and hypotheses: Ukraine has a 25 districts, with a population of 45 553 000, including 7 971 638 children.Method: We analyzed data based on a clinical diagnosis in child population aged 0–17 years old centrally from all regions of Uk...

hrp0094p2-133 | Diabetes and insulin | ESPE2021

Risk factors of autoimmune thyroid disease in children with type 1 diabetes mellitus

Volkava Nataliya , Solntsava Anzhalika ,

Background and Aims: The incidence and prevalence of childhood type 1 diabetes (T1D) increases all over the world. The disease is often combined with other autoimmune lesions. The most common is autoimmune thyroid diseases. The combination of several autoimmune diseases significantly worsens diabetes control in children with T1D. The aim of the study: to identify risk factors of autoimmune thyroid diseases in children with T1D based on the study of the feature...

hrp0089p2-p362 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Mini-Puberty in Boys with Inguinal Cryptorchidism

Raygorodskaya Nadezda , Bolotova Nina , Cherednikova Kseniya , Filina Nataliya , Nikolaeva Nataliya

Background: The period of 0–6 month of life is a short window for postnatal testicular maturation and the diagnostic of reproductive disorders.Objective: To evaluate the functional condition of the hypothalamo-pitutary-gonadal axis in 1–3 months boys with cryptorchidism.Method: 51 boys ages 1–3 months with cryptorchidism were examined: group 1–30 boys with unilateral inguinal retention testes and group 2–21...