Nr5a1, also known as steroidogenic factor 1 (SF-1) or Ad4BP, is an essential transcription factor belonging to the nuclear receptor superfamily. It serves as a key transcriptional regulator of genes involved in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal steroidogenic axes, playing a crucial role in the development and function of the adrenal glands and gonads, as well as in reproductive physiology and endocrine function [2,5,6,8].

Knockout mouse studies have shown that Nr5a1-deficient mice lack both gonads and adrenal glands, highlighting its vital role in organ development [3]. In relation to human diseases, NR5A1 mutations are associated with a wide spectrum of disorders of sex development (DSD), including 46,XX ovotesticular DSD, 46,XY DSD, and primary ovarian insufficiency (POI) [1,2,4,5,6,7,8]. These mutations can lead to various phenotypes, such as abnormal development of internal and/or external genitalia, amenorrhea, ovarian failure, hypogonadism, and infertility [2].

In conclusion, Nr5a1 is a pivotal factor in the development and function of the adrenal glands and gonads. The gene knockout mouse models have been instrumental in revealing its role in organogenesis. In the context of human health, Nr5a1 mutations are implicated in DSD and POI, highlighting the importance of understanding its function for diagnosing and potentially treating these conditions.