References

These sources were used to develop the Genetics Home Reference condition summary on Swyer syndrome.

Assumpção JG, Benedetti CE, Maciel-Guerra AT, Guerra G Jr, Baptista MT, Scolfaro MR, de Mello MP. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. J Mol Med (Berl). 2002 Dec;80(12):782-90. Epub 2002 Oct 1. PubMed citation
Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab. 2007 Aug;92(8):3305-13. Epub 2007 May 15. PubMed citation
Canto P, Söderlund D, Reyes E, Méndez JP. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab. 2004 Sep;89(9):4480-3. Erratum in: J Clin Endocrinol Metab. 2004 Nov;89(11):5453. PubMed citation
Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Eur J Hum Genet. 2007 Jan;15(1):76-80. Epub 2006 Oct 25. PubMed citation
Kellermayer R, Halvax L, Czakó M, Shahid M, Dhillon VS, Husain SA, Süle N, Gömöri E, Mammel M, Kosztolányi G. A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. Diagn Mol Pathol. 2005 Sep;14(3):159-63. PubMed citation
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. PubMed citation
Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. BJOG. 2008 May;115(6):737-41. doi: 10.1111/j.1471-0528.2008.01703.x. PubMed citation
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. PubMed citation
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. PubMed citation
Sarafoglou K, Ostrer H. Clinical review 111: familial sex reversal: a review. J Clin Endocrinol Metab. 2000 Feb;85(2):483-93. Review. PubMed citation
Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA. Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod. 2004 Jul;10(7):521-6. Epub 2004 May 21. PubMed citation
Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug;122(1):63-70. Epub 2007 May 15. PubMed citation
Zieliñska D, Zajaczek S, Rzepka-Górska I. Tumors of dysgenetic gonads in Swyer syndrome. J Pediatr Surg. 2007 Oct;42(10):1721-4. PubMed citation


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