hrp0089p3-p129 | Fat, Metabolism and Obesity P3 | ESPE2018

Obesity of Childhood and Ambulatory Glucose Monitorization

Ergur Ayca Torel , Atmaca Berrin , Emeksiz Tuğce Ataseven

Introduction: Childhood obesity (CO) is an important risk factor for the development of many chronic metabolic diseases of the adult age, and one of the most important ones is glucose homeostasis. However, the parameters used to diagnose carbohydrate metabolism disorders in obese children are not always guiding early in detecting pathologies, and may be inadequate to predict the pathologies. For this reason new diagnostic methods are needed. For this purpose, in this ...

hrp0089p2-p072 | Diabetes & Insulin P2 | ESPE2018

Syndromic Patients with Negative Islet Autoantibodies should be Tested for Mongenic Diabetes: Lessons from Patient with Trmt10a Mutation

Siklar Zeynep , Colclough Kevin , Patel Kashyap A , Cetin Tuğba , Berberoğlu Merih

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

hrp0089p3-p320 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Central Precocious Puberty Appeared in Infancy Period in a Patient of Sotos Syndrome

Cetin Tuğba , Ceylaner Serdar , Şıklar Zeynep , Berberoğlu Merih

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...

hrp0097p1-531 | Multisystem Endocrine Disorders | ESPE2023

Clinical analysis of 193 patients with McCune-Albright syndrome in China based on literature review

Feng Xin , Yuan ke , Lu Huifei , Tu Haifeng , Zhu Jianfang , Fang yanlan , Yan Qingfeng , Wang Chunlin

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. ...

hrp0089p3-p357 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Case of Transverse Testicular Ectopia with Persistant Müllerian Duct Syndrome: A Novel AMH Gene Mutation

Kılınc Suna , Cicek Tuğrul , Moralıoğlu Serdar , Guven Ayla

Background: The concurrence of transverse testicular ectopia (TTE) with persistent müllerian duct syndrome (PMDS) is extremely rare. Here, we report a case of TTE with PMDS in a 7-month-old male infant presenting with inguinal hernia and a novel homozygous mutation in the AMH gene. CASE REPORT: A 7-month-old male infant presented to pediatric surgery department with an inguinal hernia on the left side and bilateral undescended testis. During left herniotomy, tiss...

hrp0095p1-47 | Diabetes and Insulin | ESPE2022

Congenital hyperinsulinism: a case with a missense monoallelic heterozygous ABCC8 mutation responsive partially to diazoxide therapy

Tien Son Do , Phuong Thao Bui , Ngoc Khanh Nguyen , Thi Bich Ngoc Can , Hoang Lan Nguyen , Thi Tu Anh Dao , Trong Thanh Nguyen , Thi Thanh Mai Do , Thi Anh Thuong Tran , Chi Dung Vu

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...