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Article

Clinical follow-up of the first SF-1 insufficient female patient.

Annales d'endocrinologie - 1 Jul 2017

Gerster Karine, Biason-Lauber Anna, Schoenle Eugen J

Abstract excerpt

OBJECTIVE: Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function...

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Identifiers

PMID: 28624161
DOI: 10.1016/j.ando.2017.01.002

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Clinical follow-up of the first SF-1 insufficient female patient.PMID 28624161Read ↗

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