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Article

A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.

BMC pediatrics - 19 Apr 2023

Zhang Dan, Wang Dajia, Tong Yajie, Li Mingyu, Meng Lingzhe, Song Qiutong, Xin Ying

Abstract excerpt

BACKGROUND: Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. To optimize management and minimize hazards, correct and early clinical and molecular diagnosis is necessary. CASE PRESENTATION: We report a 13-year-old Chinese adolescent with absent Müllerian derivatives and suspected testis in the inguinal area. History, examinations, and assistant...

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Identifiers

PMID: 37072715
DOI: 10.1186/s12887-023-03974-7
PMCID: PMC10114376

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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