Adrenal insufficiency, NR5A1 related

Definition:

NR5A1, also termed steroidogenic factor 1 (SF-1), is a nuclear receptor and a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. There are some known mutations of the NR5A1 gene in humans. A few of them were originally identified in patients with adrenal insufficiency. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency.

References:

[1]. Diana Lourenço, et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10. [Content Brief]

[2]. John C Achermann, et al. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab. 2002 Apr;87(4):1829-33. [Content Brief]

[3]. Sorahia Domenice, et al. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. [Content Brief]

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