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NR5A1-associated DSD

MIM.184757 ORPHA168558 CIM-10:Q56.1

Tuesday 20 April 2010


- XY sex reversal with adrenal failure (MIM.612965)
- complete XY gonadal dysgenesis (20453312)

See also

- NR5A1 (SF-1; SF1)
- complete or partial 46,XY gonadal dysgenesis
- 46,XY disorder of sexual development (46,XY DSD)
- disorders of sexual development (DSDs)


- Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development. Barbaro M, Cools M, Looijenga LH, Drop SL, Wedell A. Sex Dev. 2011;5(4):181-7. PMID: 21654157

- Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. Soardi FC, Coeli FB, Maciel-Guerra AT, Guerra-Júnior G, Mello MP. J Appl Genet. 2010;51(2):223-4. PMID: 20453312 [Free]

- Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, Frances AM, Lespinasse J, Raingeard I, Servant N, Audran F, Paris F, Sultan C. Reprod Biol Endocrinol. 2010 Mar 19;8:28. PMID: 20302644 [Free]

- A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure. Tajima T, Fujiwara F, Fujieda K. Endocr J. 2009 Aug;56(4):619-24. PMID: 19318730 [Free]

- A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. van Silfhout A, Boot AM, Dijkhuizen T, Hoek A, Nijman R, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. Eur J Med Genet. 2009 Mar-Jun;52(2-3):157-60. PMID: 19269353

- Mutations in the NR5A1 associated with ovarian insufficiency. Lourenco, D.; Brauner, R.; Lin, L.; De Perdigo, A.; Weryha, G.; Muresan, M.; Boudjenah, R.; Guerra-Junior, G.; Maciel-Guerra, A. T.; Achermann, J. C.; McElreavey, K.; Bashamboo, A. New Eng. J. Med. 360: 1200-1210, 2009. PubMed ID : 19246354 (Free)

- Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Lin L, Achermann JC. Sex Dev. 2008;2(4-5):200-9. Epub 2008 Nov 5. PMID: 18987494 [Free]

- Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Kohler, B.; Lin, L.; Ferraz-de-Souza, B.; Wieacker, P.; Heidemann, P.; Schroder, V.; Biebermann, H.; Schnabel, D.; Gruters, A.; Achermann, J. C. : Hum. Mutat. 29: 59-64, 2008. PubMed ID : 17694559

- Lin, L.; Philibert, P.; Ferraz-de-Souza, B.; Kelberman, D.; Homfray, T.; Albanese, A.; Molini, V.; Sebire, N. J.; Einaudi, S.; Conway, G. S.; Hughes, I. A.; Jameson, J. L.; Sultan, C.; Dattani, M. T.; Achermann, J. C. : 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. Endocr. Metab. 92: 991-999, 2007. PubMed ID : 17200175

- Lee, P. A.; Houk, C. P.; Ahmed, S. F.; Hughes, I. A. : Consensus statement on management of intersex disorders. Pediatrics 118: e488-e500, 2006. Note: Electronic Article. PubMed ID : 16882788

- Lin, L.; Gu, W.-X.; Ozisik, G.; To, W. S.; Owen, C. J.; Jameson, J. L.; Achermann, J. C. : Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years’ experience. J. Clin. Endocr. Metab. 91: 3048-3054, 2006. PubMed ID : 16684822

- Hasegawa, T.; Fukami, M.; Sato, N.; Katsumata, N.; Sasaki, G.; Fukutani, K.; Morohashi, K.-I.; Ogata, T. : Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J. Clin. Endocr. Metab. 89: 5930-5935, 2004. PubMed ID : 15579739

- Correa, R. V.; Domenice, S.; Bingham, N. C.; Billerbeck, A. E. C.; Rainey, W. E.; Parker, K. L.; Mendonca, B. B. : A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. J. Clin. Endocr. Metab. 89: 1767-1772, 2004. PubMed ID : 15070943

- Achermann, J. C.; Ito, M.; Ito, M.; Hindmarsh, P. C.; Jameson, J. L. : A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. (Letter) Nature Genet. 22: 125-126, 1999. PubMed ID : 10369247

- Luo, X.; Ikeda, Y.; Parker, K. L. : A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77: 481-490, 1994. PubMed ID : 8187173

- Berkovitz, G. D.; Fechner, P. Y.; Zacur, H. W.; Rock, J. A.; Snyder, H. M, 3rd; Migeon C. J.; Perlman, E. J. : Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine 70: 375-383, 1991. PubMed ID : 1956279