Meyahealth
HomeGeneticsGeneNR5A1 gene
Back to Gene
NR5A1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NR5A1 gene

The NR5A1 gene produces a transcription factor called steroidogenic factor 1, which is critical for the development of the gonads and adrenal glands.

Normal Function

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. The adrenal glands produce several hormones that regulate many essential functions in the body.

Health Conditions Related to Genetic Changes

Swyer syndrome

NR5A1 gene variants (also called mutations) have been identified in a small number of people with Swyer syndrome, also known as 46,XY complete gonadal dysgenesis. Individuals with Swyer syndrome have a male-typical chromosome pattern (46,XY karyotype), but they develop female-typical sex characteristics.

Variants in the NR5A1 gene in people with Swyer syndrome impair the function of steroidogenic factor 1. These changes affect the process of sex development, preventing affected individuals with a 46,XY karyotype from developing testes and causing them to develop female reproductive structures (a uterus and fallopian tubes).

Other disorders

NR5A1 gene variants 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-typical or clearly female-typical, or other abnormalities of the genitals and reproductive organs. Affected individuals may also have abnormalities of the adrenal glands, which may cause hormone deficiencies.

NR5A1 gene variants that affect gonadal development and function have also been identified in people whose gonads do not produce reproductive cells (eggs or sperm). These conditions, which are called spermatogenic failure in men and primary ovarian insufficiency in women, result in an inability to conceive children (infertility).

Other Names for This Gene

  • AD4BP
  • adrenal 4 binding protein
  • ELP
  • FTZ1
  • FTZF1
  • fushi tarazu factor homolog 1
  • hSF-1
  • nuclear receptor AdBP4
  • nuclear receptor subfamily 5, group A, member 1
  • SF-1
  • SF1
  • steroid hormone receptor Ad4BP
  • steroidogenic factor 1
  • STF1_HUMAN

Frequently Asked Questions

The inheritance pattern for NR5A1-related conditions can vary. Many cases are sporadic (new mutation in the affected individual), but it can also be inherited in an autosomal dominant manner. This means only one copy of the altered gene in each cell is sufficient to cause the condition. If a parent has an NR5A1 variant, there is a 50% chance with each pregnancy that their child will inherit the variant. Genetic counseling is recommended to understand specific risks.
Diagnosis often involves genetic testing (karyotyping to confirm 46,XY, and specific NR5A1 gene sequencing) in individuals presenting with absent or underdeveloped gonads, delayed puberty, or ambiguous genitalia. For Swyer syndrome, individuals with a 46,XY karyotype will have female external genitalia but no functional testes, often discovered during investigation for absent menstruation.
Some NR5A1 gene variants can affect adrenal gland development, leading to adrenal insufficiency. This means the adrenal glands may not produce enough essential hormones like cortisol or aldosterone. Symptoms can include fatigue, low blood pressure, salt craving, and in severe cases, adrenal crisis, which is a medical emergency requiring immediate treatment. Regular monitoring of adrenal function may be necessary.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ