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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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ey0015.6-14 | New function of old genes | ESPEYB15

6.14 GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

I Martinez de LaPiscina , C de Mingo , S Riedl , A Rodriguez , AV Pandey , M Fernández-Cancio , N Camats , A Sinclair , L Castaño , L Audi , CE Flück

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....

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ESPE Yearbook of Paediatric Endocrinology

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

6.14 GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

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