ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 2 results

ey0021.6-5 | Clinical and Molecular Insights into SF1 Deficiency | ESPEYB21

6.5. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1 /SF-1 variants of sex development

C Kouri , G Sommer , I Martinez de Lapiscina , RN Elzenaty , LJW Tack , M Cools , SF Ahmed , CE; SF1next study group Fluck

Brief Summary: The SF1next study describes a cohort of 197 individuals with NR5A1 / SF-1 variants, identified through the I-DSD registry and a research network involving 55 centers across 18 countries. NR5A1/SF-1 plays a crucial role in the development and function of human sex and steroid producing organs, and variants in this gene can significantly affect early sex determination and differentiation. This can lead to a wide spectrum of differences i...
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ey0019.6-4 | Co-morbidities associated with DSD | ESPEYB19

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

LJW Tack , der Straaten S van , S Riedl , A Springer , PM Holterhus , NC Hornig , Z Kolesinska , M Niedziela , F Baronio , A Balsamo , SE Hannema , A Nordenstrom , S Poyrazoglu , FF Darendeliler , R Grinspon , R Rey , F Aljuraibah , J Bryce , F Ahmed , R Tadokoro-Cuccaro , I Hughes , G Guaragna-Filho , AT Maciel-Guerra , G Guerra-Junior , M Cools

Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growt...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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