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hrp0094p2-398 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Evaluation of genomic copy number variations in the etiology of syndromic patients with diferences of sex development (DSD)

Antonio Diniz Faria Junior Jose , R. Moraes Daniela , L. Batista Rafael , Gomes Lisboa Natalia , D. Kulikowski Leslie , Y Nishi Miriam , B Mendonca Berenice , Domenice Sorahia ,

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...

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hrp0095p1-582 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

An International Study Of The Association Between Local Health Care Resources And Acute Adrenal Insufficiency Events In Children With Congenital Adrenal Hyperplasia

Tseretopoulou Xanthippi , R. Ali Salma , Bryce Jillian , Navoda Atapattu , H. Birkebaek Niels , Baronio Federico , Bonfig Walter , L. Claahsen-van der Grinten Hedi , Cools Martine , Darendeliler Feyza , Poyrazoglu Sukran , de Sanctis Luisa , Elsedfy Heba , J.J. Finken Martijn , E. Fluck Christa , Gevers Evelien , Korbonits Marta , Guran Tulay , Guven Ayla , A. Hughes Ieuan , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Iotova Violeta , Krone Ruth , Lichiardopol Corina , B. Mendonca Berenice , A. S. S. Bachega Tania , C. Miranda Mirela , Milenkovic Tatjana , Mohnike Klaus , Nordenstrom Anna , J. van der Kamp Hetty , Faisal Ahmed Syed

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

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ESPE Abstracts

Evaluation of genomic copy number variations in the etiology of syndromic patients with diferences of sex development (DSD)

An International Study Of The Association Between Local Health Care Resources And Acute Adrenal Insufficiency Events In Children With Congenital Adrenal Hyperplasia

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