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Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.

Fertility and sterility - 1 Apr 2011

Philibert Pascal, Polak Michel, Colmenares Ana, Lortat-Jacob Stephen, Audran Françoise, Poulat Francis, Sultan Charles

Abstract excerpt

OBJECTIVE: To further investigate the molecular mechanism by which NR5A1/SF-1 mutation led to gonadal dysgenesis with predominant Sertoli cell defect. DESIGN: Genetic and functional mutation study. SETTING: University hospital. PATIENT(S): Genetic analysis of an XY newborn with hypospadias and mi...

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PMID: 21163476
DOI: 10.1016/j.fertnstert.2010.11.035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21163476-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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