[Clinical and genetic features of pedigrees with NR5A1 related disorders of sex development].

PubMed 2026

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Authors: Li Li, X Q Li, Y N Song, X Y Ren, L J Fan, C X Gong
DOI: 10.3760/cma.j.cn112140-20250916-00845
Cited by: 0

Abstract

The clinical spectrum of phenotypes associated with NR5A1-retated DSD is broad. Fertility is possible for individuals carrying these variants, regardless of their personal phenotypic expression. Notably, children reared females may later undergo gender reassignment to male.

Fields of Study & Subjects

Sexual Differentiation and Disorders Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Urological Disorders and Treatments

Publication details

Journal / source
PubMed
Volume
64
Issue
2
Pages
192–196
Publication date
2 February 2026
Language
ZH