Swyer syndrome
Last updated 31 Jan 2025
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Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.
Description
Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.
Chromosomes contain the genetic instructions for how the body develops and functions. 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 reproductive structures. 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). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures.
People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development."
Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Y-linked; Autosomal recessive; Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
46,XY CGD
46,XY complete gonadal dysgenesis
46,XY sex reversal
Gonadal dysgenesis, 46,XY
Pure gonadal dysgenesis 46,XY
XY pure gonadal dysgenesis
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Further reading and references
- Swyer syndrome; MedlinePlus, National Library of Medicine.
- Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct;10(10):603-15. doi: 10.1038/nrendo.2014.130. Epub 2014 Aug 5.
- Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Delot E, Vilain E. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10.
- Baxter RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. 2013;14:371-92. doi: 10.1146/annurev-genom-091212-153417. Epub 2013 Jul 15.
- Delot EC, Vilain E. Towards improved genetic diagnosis of human differences of sex development. Nat Rev Genet. 2021 Sep;22(9):588-602. doi: 10.1038/s41576-021-00365-5. Epub 2021 Jun 3.
- El-Khairi R, Achermann JC. Steroidogenic factor-1 and human disease. Semin Reprod Med. 2012 Oct;30(5):374-81. doi: 10.1055/s-0032-1324720. Epub 2012 Oct 8.
- Fabbri-Scallet H, de Sousa LM, Maciel-Guerra AT, Guerra-Junior G, de Mello MP. Mutation update for the NR5A1 gene involved in DSD and infertility. Hum Mutat. 2020 Jan;41(1):58-68. doi: 10.1002/humu.23916. Epub 2019 Sep 27.
- Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE. MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15.
- King TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113.
- Loke J, Pearlman A, Radi O, Zuffardi O, Giussani U, Pallotta R, Camerino G, Ostrer H. Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/beta-catenin signaling. Hum Mol Genet. 2014 Feb 15;23(4):1073-83. doi: 10.1093/hmg/ddt502. Epub 2013 Oct 16.
- Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP. Review and management of 46,XY disorders of sex development. J Pediatr Urol. 2013 Jun;9(3):368-79. doi: 10.1016/j.jpurol.2012.12.002. Epub 2012 Dec 29.
- McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24.
- 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.
- Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development Overview. 2008 May 21 [updated 2022 Aug 18]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1547/
- Ostrer H. Disorders of sex development (DSDs): an update. J Clin Endocrinol Metab. 2014 May;99(5):1503-9. doi: 10.1210/jc.2013-3690. Epub 2014 Apr 23.
- Patnayak R, Suresh V, Jena A, Rajagopal G, Vijayalakshmi B, Reddy AP, Rukumangadha M, Sachan A. Swyer syndrome: a case report with literature review. JNMA J Nepal Med Assoc. 2012 Apr-Jun;52(186):72-4.
- Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10;87(6):898-904. doi: 10.1016/j.ajhg.2010.11.003.
- Tang R, Liu X, Pan L, Chen R. Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis. Fertil Steril. 2019 Jun;111(6):1226-1235.e1. doi: 10.1016/j.fertnstert.2019.01.027. Epub 2019 Mar 25.
- Zhu J, Liu X, Jin H, Lu X. Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. Clin Exp Obstet Gynecol. 2011;38(4):414-8.
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