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Article

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

The Journal of clinical endocrinology and metabolism - 1 Dec 2004

Hasegawa Tomonobu, Fukami Maki, Sato Naoko, Katsumata Noriyuki, Sasaki Goro, Fukutani Keiko, Morohashi Ken-Ichirou, Ogata Tsutomu

Abstract excerpt

Steroidogenic factor-1 (SF-1) regulates multiple genes involved in the adrenal and gonadal development and in the biosynthesis of a variety of hormones, including adrenal and gonadal steroids, anti-Mullerian hormone (AMH), and gonadotropins. We identified a novel SF-1 mutation in a 27-yr-old Japanese patient with a 46,XY karyotype. Sequence analysis was performed for all the seven exons of SF-1, revealing a...

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Identifiers

PMID: 15579739
DOI: 10.1210/jc.2004-0935

Genes

AMH

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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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Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.PMID 15579739Read ↗

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