hrp0094p1-66 | Diabetes B | ESPE2021

Mortality in children with monogenic diabetes

Globa Eugenia , Zelinska Natalia , Franco Elisa De , Houghton Jayne , Johnson Matthew , Ellard Sian ,

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

hrp0092p1-361 | GH and IGFs (2) | ESPE2019

Long-Term Safety of a Once-Weekly Somatrogon (hGH-CTP): 4-Year Results of a Phase 2 Extension Study in Children with Growth Hormone Deficiency

Zielinska Nataliya , Skorodok Yulia , Malievsky Oleg , Iotova Violeta , Rosenfeld Ron G. , Zadik Zvi , Vander Shelly , Pastrak Aleksandra

Background: Once-daily growth hormone (GH) therapy is an effective treatment for children with growth hormone deficiency (GHD), but compliance wanes with ongoing treatment. A once -weekly GH, somatrogon (hGH-CTP), is being developed to reduce the treatment burden of daily dosing for children and caregivers and potentially improve compliance and long-term efficacy. The impact of once-weekly somatrogon on long-term safety, local tolerability and immunogenicity w...

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...

hrp0094p1-43 | Sex Endocrinology and Gonads A | ESPE2021

Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Ahmed Faisal , Balsamo Antonio , Baronio Federico , Bryce Jillian , Camats Nuria , Cetinkaya Semra , van der Grinten Hedi L Claahsen , Cools Martine , Darendeliler Fatma Feyza , Davies Justin H , Fabbri-Scallet Helena , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Hannema Sabine , Hiort Olaf , Janner Marco , Kalinchenko Natalia , Lachlan Katherine , Kolesinska Zofia , l’Allemand Dagmar , Lang-Muritano Mariarosaria , Lucas-Herald Angela , Martin Idoia Martinez de Lapiscina , Mazen Inas , Moenig Isabel , Muhrer Julia , Niedziela Marek , Nordenstrom Anna , Orman Burce , Poyrazoglu Sukran , Tack Lloyd , Tadokoro-Cuccaro Rieko , Wasniewska Malgorzata , Yavas Zehra , Zelinska Nataliya , Fluck Christa E ,

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

hrp0095t11 | Section | ESPE2022

Factors associated with authoimmune thyroid diseases in children with diabetes mellitus type 1

Volkava Nataliya , Solntsava Anzhalika , Aksyonova Elena

Objective: to determine risk factors of co-existing thyroid autoimmunity in children with type 1 diabetes mellitus (T1DМ).Material and Methods: 48 children with combined autoimmune pathology (45 – with T1DМ and autoimmune thyroiditis and 3 – with T1DМ and Grave’s disease) – main group, age 12.51±3.57 years) and 99 patients with only T1DM (comparison group, age 11.76±3.05 years) w...

hrp0082p3-d2-780 | Fat Metabolism & Obesity (1) | ESPE2014

Age-Related Characteristics of Nutritional Status in Children with Alimentary Obesity

Volkova Nataliya , Solntsava Anzhalika , Zagrebaeva Olga

Background: Among alimentary factors leading to obesity in children, the main ones are: consumption of high-calorie foods with high content of carbohydrates and getting more calories during the second half of the day.Objective: To study feeding habits in children of different ages with alimentary obesity compared with normative values.Methods: We compared 3-day food diaries of 115 children with alimentary obesity with nutritional s...

hrp0095p1-381 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Gynaecomastia And Its Management In Partial Androgen Insensitivity Syndrome (PAIS)

Patjamontri Supitcha , Lucas-Herald Angela , Bryce Jillian , Cools Martine , Gianni Russo , Globa Evgenia , Zelinska Natalia , Guerra-Junior Gil , Holterhus Paul-Martin , A Hughes Ieuan , Tadokoro-Cuccaro Rieko , Nordenstrom Anna , Rita Stancampiano Marianna , Weintrob Naomi , van den Akker Erica , Hiort Olaf , Hoffman Paul , Juul Anders , Nimali Seneviratne Sumudu , Faisal Ahmed S.

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...

hrp0092p1-350 | Fat, Metabolism and Obesity (2) | ESPE2019

Metabolic Risk in Long-Term Survivors of Childhood Acute Lymphoblastic Leukemia

Belcheva Milena , Iotova Violeta , Usheva Nataliya , Bocheva Yana , Popova Ralitsa , Pancheva Ruzha , Hristozova Hristina , Kaleva Valeriya

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...