NR5A1 Gene: History
Please note this is an old version of this entry, which may differ significantly from the current revision.

nuclear receptor subfamily 5 group A member 1

  • genes

1. Introduction

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.

2. Health Conditions Related to Genetic Changes

2.1. Swyer syndrome

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

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 usually have one X chromosome and one Y chromosome (46,XY karyotype).

Mutations in the NR5A1 gene in people with Swyer syndrome affect the process of sexual differentiation, preventing affected individuals with a 46,XY karyotype from developing male gonads (testes) and causing them to develop female reproductive structures (a uterus and fallopian tubes).

2.2. Other disorders

NR5A1 gene 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.

NR5A1 gene mutations 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 premature ovarian failure in women, result in an inability to conceive children (infertility).

3. 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

This entry is adapted from the peer-reviewed paper


  1. 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 infertilityassociated with mutations in NR5A1 encoding steroidogenic factor 1. Am J HumGenet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Erratum in: Am JHum Genet. 2010 Nov 12;87(5):736.
  2. 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 insteroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severeunderandrogenization but without adrenal insufficiency. Hum Mutat. 2008Jan;29(1):59-64.
  3. 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 factor1 (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.
  4. 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.
  5. Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, Morel Y. Gonadaldysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for thenonsense C16X mutation: a case of SF1 haploinsufficiency. J Clin EndocrinolMetab. 2004 Oct;89(10):4829-32.
  6. Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of TesticularDevelopment. 2008 May 21 [updated 2016 Jun 2]. In: Adam MP, Ardinger HH, PagonRA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom
  7. Ozisik G, Achermann JC, Jameson JL. The role of SF1 in adrenal andreproductive function: insight from naturally occurring mutations in humans. Mol Genet Metab. 2002 Jun;76(2):85-91. Review.
  8. Ozisik G, Achermann JC, Meeks JJ, Jameson JL. SF1 in the development of theadrenal gland and gonads. Horm Res. 2003;59 Suppl 1:94-8. Review.
  9. Reuter AL, Goji K, Bingham NC, Matsuo M, Parker KL. A novel mutation in theaccessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadaldysgenesis without adrenal insufficiency. Eur J Endocrinol. 2007Aug;157(2):233-8.
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