hrp0084p2-320 | DSD | ESPE2015

The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey

Akcan Nese , Toksoy Guven , Uyguner Oya , Saka Nurcin , Altunoglu Umut , Abali Zehra Yavas , Genens Mikayir , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Main diagnosis of 46,XY disorders of sex development (DSD) with normal testosterone secretion Androgen insensivity sydrome (AIS) or 5α-reductase deficiency (5α-RD). In prepubertal period, AIS and 5α-RD present indistinguishable phenotypes that necessitate the molecular analyses for the definitive diagnosis.Objective and hypotheses: Clinical, hormonal and genetic investigation of 46,XY DSD patients who considered as PAIS or 5&#9...

hrp0092p3-48 | Diabetes and Insulin | ESPE2019

Oral Glucose Tolerance Test (OGTT) as a Useful Tool for Early Diagnosis of Type 2 Diabetes Mellitus and Prediction of Metabolic Risks in Children and Adolescents

Kostopoulou Eirini , Tikka Maria , Rojas Gil Andrea Paola , Partsalaki Ioanna , Spiliotis Bessie

Objective: Type 2 Diabetes Mellitus(T2DM)and obesity represent two major health hazards in children and adolescents, with rising prevalence. Several markers have been developed in order to diagnose T2DM and detect potential metabolic abnormalities.The objective of the study was to examine glucose tolerance in Greek children and adolescents and the differences in the glucose, insulin and c-peptide response curves between male and female children and adolescents...

hrp0089p2-p397 | Thyroid P2 | ESPE2018

Hypothyroidism in a Child During Treatment with Nivolumab for a Glioblastoma

H Birkebaek Niels , Dahl Christine

Objective: The programmed cell death 1 protein (PD1) is a T lymphocyte membrane receptor, which when bound to its ligand PD – L1 inactivates the cytotoxic T lymphocyte, thereby down regulating the immune response. Cancer may upregulate PD – L1 on the cell surface, further downregulating the immune response. Nivolumab, a so called check point inhibitor, is a PD1 antibody, and when bound to PD1 keep the cytotoxic T lymphocyte active. Cytotoxic T lymphocyte activation b...

hrp0086p2-p411 | Gonads & DSD P2 | ESPE2016

Phenotypic and Hormonal Variability in 46,XY Subjects with SF-1 Mutations

Dillies Natacha , Brasseur Aurelie , Rouleau Stephanie , Metz Chantal , Naud-Saudreau Catherine , Morel Yves , Coutant Regis

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

hrp0086p2-p414 | Gonads & DSD P2 | ESPE2016

Disorders of Sex Development 45,X/46,XY: Clinical and Laboratory Characteristics of Patients

Sannikova Ekaterina , Latyshev Oleg , Samsonova Lubov , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY.Subjects and methods: It was included 248 patients with genital ambiguity, which were divided into groups based on cytogenetic survey. All children with mosaicism 45,X/46,XY evaluated the structure of the external genitalia on the external masculinization score (EMS, range 0–12), ultrasound examination, the definition of anti-Mu...

hrp0082p2-d1-566 | Sex Development | ESPE2014

The Research About sf1 Gene Abnormality in 45 Children with Micropenis

Li Pin , Gong Yan , Zhuzhi Ying

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...

hrp0084p3-593 | Adrenals | ESPE2015

CYP21A2 Gene Mutations Analysis in 21 Chinese Patients with Salt-Wasting form of Congenital Adrenal Hyperplasia

Yao Hui , Yang Luhong , Huang Xiaoli , Chen Xiaohong

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

hrp0095p2-281 | Thyroid | ESPE2022

Effects of therapy on Th1, Th17, Th22 and Bregs in pediatric patients with Graves' disease

Stożek Karolina , Grubczak Kamil , Starosz Aleksandra , Bossowski Filip , Moniuszko Marcin , Bossowski Artur

Introduction: The precise pathogenesis of Graves’ disease (GD) still remains unclear, especially in the field of immunological aspects. Thyroid infiltration by reactive T and B lymphocytes plays a crucial role in the course of autoimmune thyroid diseases (ATD). Previous pattern of inflammation process was characterized by the presence of two antagonistic groups of T effector or also called- helper cells: Th1 and Th2. Recently, more attention is paid to T...

hrp0092p2-74 | Diabetes and Insulin | ESPE2019

Impact of the Flash Glucose Monitoring System on Children with Type 1 Diabetes After the First Year of Using in Systematic Way

Freijo Martin Concepcion , Bertholt Zuber Laura , Palenzuela Inmaculada

The Flash glucose monitoring System(FGMS) is a system of measurement of the interstitial glucose levels in real time, safe, effective and doesn´t require calibration. Its low cost has allowed to be approved for all children under 18 years old by our Regional Health Service.Objective: To assess the impact during this first year of use of FGMS in all children diagnosed with type 1 diabetes who previously used the classic method of cap...

hrp0082p2-d2-576 | Sex Development (1) | ESPE2014

The Utility of AMH for Predicting Testosterone Response to hCG Stimulation in Children with Suspected DSD

Kyriakou Andreas , McNeilly Jane D , Shaikh Guftar M , Mason Avril , Shapiro David , Ahmed Syed Faisal

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...