NR5A1

The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Steroidogenic factor 1 helps control the activity of several genes related to the development of the gonads (ovaries and testes) and the adrenal glands, which are small glands located on top of each kidney.

Swyer syndrome - caused by mutations in the NR5A1 gene

NR5A1 gene mutations have been identified in a small number of people with Swyer syndrome, also known as 46, XY complete or pure gonadal dysgenesis.

People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males ordinarily have one X chromosome and one Y chromosome (46,XY).

Mutations in the NR5A1 gene in people with Swyer syndrome impair the process of male sexual differentiation, causing affected individuals to develop a female appearance despite having the chromosome pattern typical of males.

other disorders - caused by mutations in the NR5A1 gene

NR5A1 mutations have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that do not look clearly male or clearly female (ambiguous genitalia) or other abnormalities of the genitals and reproductive organs. They may also have abnormalities of the adrenal glands, which produce several hormones that regulate many essential functions in the body. Adrenal gland abnormalities may cause a deficiency of these hormones, resulting in a variety of health problems.