ESPE Abstracts

ESPE Abstracts

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hrp0095p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Phenotype-genotype characteristics of SRD5A2 with variation in gender choice among affected individuals: A single centre experience

Kaninde Abhidhamma , Baranowski Elizabeth , Igbowke Rebecca , McCarthy Liam , Chandran Harish , Vandermerwe Elmarie , Fulton Piers , Godber Caroline , Smart Helen , Curtis Joanne , Cole Trevor , Gleeson Helena , Latthe Pallavi , Kirk Jeremy , Idkowiak Jan , Mohamed Zainaba

Background: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...
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ESPE Abstracts

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