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Article

Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.

Hormone research in paediatrics - 1 Jan 2013

Nishina-Uchida Noriko, Fukuzawa Ryuji, Numakura Chikahiko, Suwanai Ayuko S, Hasegawa Tomonobu, Hasegawa Yukihiro

Abstract excerpt

BACKGROUND: Individuals with NR5A1 mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that hypoplastic seminiferous tubules and the emergence of Leydig cells with vacuolar cytoplasms are seen predominantly in the majority of individuals with NR5A1 mutations. AIM: The aim of this study was to address...

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PMID: 23969951
DOI: 10.1159/000353763

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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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