Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …

Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …

Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …

The bipotential nature of cell types in the early developing gonad and the process of sex
determination leading to either testis or ovary differentiation makes this an interesting system …

Abstract Context Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates
sex development, steroidogenesis, and reproduction. Genetic variants in NR5A1/SF-1 are …

The chromosomal sex of the embryo is established at fertilization. However, 6 weeks elapse
in humans before the first signs of sex differentiation are noticed. Sex differentiation involves …

Ovarian deficiency, including diminished ovarian reserve and premature ovarian
insufficiency, represents one of the main causes of female infertility. Little is known of the …

Disorders of sex development (DSD) are a complex group of conditions with highly variable
clinical phenotypes, most often caused by failure of gonadal development. DSD are …

Context 46, XY differences of sex development (DSD) are heterogeneous in etiology. The
detailed phenotypes of 46, XY DSD patients with monogenic disorders have not been fully …

Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays pivotal roles in
steroidogenesis and gonadal development. 46, XY disorder of sexual development (DSD) …