The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans
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Updated: Sep 30, 2026

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Published on: August 11, 2023
Gokhan Ozisik1, John C Achermann, J Larry Jameson
1Division of Endocrinology, Metabolism, and Molecular Medicine, The Feinberg School of Medicine, Northwestern University, Chicago, IL 60611-3008, USA.
Abstract:
Steroidogenic factor 1 is a monomeric orphan nuclear receptor and one of several hundreds of transcription factors encoded in the human genome. It regulates the transcription of many genes involved in gonadal development, sexual differentiation, steroidogenesis and reproduction. Recently, mutations in the gene encoding SF1 have been identified in several patients with primary adrenal failure and 46,XY sex-reversal. Interpreting the consequences of these mutations provides further understanding of transcription factor haploinsufficiency in human genetic disease as well as the exquisite sensitivity of humans to gene-dosage effects during adrenal and gonadal development.
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