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

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