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NR5A1 gene

nuclear receptor subfamily 5 group A member 1
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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 or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex development.

Sex development usually follows a particular pattern based on an individual's chromosomes. People usually 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. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). However, 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).

More About This Health Condition

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 (ambiguous genitalia) or other abnormalities of the genitals and reproductive organs. Affected individuals may also have abnormalities of the adrenal glands, which may cause hormone deficiencies, resulting in a variety of health problems. NR5A1 gene variants that cause 46,XY disorder of sex development impair the function of steroidogenic factor 1, though likely to a lesser extent than variants that cause Swyer syndrome (described above).

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Research Resources

References

  • Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Erratum in: Am J Hum Genet. 2010 Nov 12;87(5):736. Citation on PubMed or Free article on PubMed Central
  • Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat. 2008 Jan;29(1):59-64. Citation on PubMed or Free article on PubMed Central
  • Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. Epub 2007 Jan 2. Citation on PubMed or Free article on PubMed Central
  • Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25. Citation on PubMed or Free article on PubMed Central
  • Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, Morel Y. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. J Clin Endocrinol Metab. 2004 Oct;89(10):4829-32. Citation on PubMed
  • Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development. 2008 May 21 [updated 2016 Jun 2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from http://www.ncbi.nlm.nih.gov/books/NBK1547/ Citation on PubMed
  • Ozisik G, Achermann JC, Jameson JL. The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans. Mol Genet Metab. 2002 Jun;76(2):85-91. Review. Citation on PubMed
  • Ozisik G, Achermann JC, Meeks JJ, Jameson JL. SF1 in the development of the adrenal gland and gonads. Horm Res. 2003;59 Suppl 1:94-8. Review. Citation on PubMed
  • Reuter AL, Goji K, Bingham NC, Matsuo M, Parker KL. A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. Eur J Endocrinol. 2007 Aug;157(2):233-8. Citation on PubMed
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