ESPE Abstracts

ESPE Abstracts

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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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hrp0094p1-48 | Sex Endocrinology and Gonads A | ESPE2021

Gonadal Outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers Lidewij S , Bruggenwirth Hennie T , van Bever Yolande , Hersmus Remko , Bryce Jilian , Ahmed S Faisal , Lucas-Herald Angela K , Baronio Federico , Cools Martine , Ellaithi Mona , Globa Evgenia , Guran Tulay , Tosun Busra Gurpinar , Hiort Olaf , Holterhus Paul-Martin , McElreavey Ken , Niedziela Marek , Stancampiano Marianna Rita , Wolffenbuttel Katja P , Oosterhuis J Wolter , Looijenga Leendert HJ , Hannema Sabine E ,

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...
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