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hrp0094fc5.5 | Sex Development and Gender Incongruence | ESPE2021

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Grijp Celien , Tavernier Simon , Neirinck Jana , Abdulhadi-Atwan Maha , Van De Velde Julie , Baetens Dorien , Verdin Hannah , Morbee Lieve , De Baere Elfride , Zangen David , Bonroy Carolien , Van Bever Yolande , Bruggenwirth Hennie , Vermont Clementien , Hannema Sabine , De Rijke Yolanda , Schelstraete Petra , Haerynck Filomeen , Cools Martine ,

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...

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Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

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