Biology of DSDs (6) Swyer Syndrome

Swyer syndrome, also known as Complete Gonadal Dysgenesis, is a sex development condition which affects individuals with a 46,XY karyotype. Because there is no testicular tissue to produce anti-Mullerian hormone and testosterone, individuals with Swyer develop female reproductive structures.

If you want to help improve medical research and psychological support for individuals with these conditions, you can donate to DSDFamilies (https://dsdfamilies.org/donate).

Biology of DSDs playlist:
   • Biology of Sex Development Disorders  

Transcripts, sources, and membership at:
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References and additional reading:
[1] NIH. (2020). Swyer syndrome. Genetics Home Reference, National Library of Medicine.
[2] Jones, R., Lopez, K. (2014). Chapter 5: Sexual differentiation. Human Reproductive Biology, 4th edition. Elsevier. 95.
[3] LOCAH. (2018). The intersex masterpost. Medium.
[4] NIH. (2020). Swyer syndrome. Genetic and Rare Diseases Information Center.
[5] Azidah, AK. (2013). Swyer syndrome in a woman with 46,XY gonadal dysgenesis. Malaysian Family Physician, 8(2).
[6] Bagci, G., et al. (2011). Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters. Amer Soc Repro Med.
[7] Michala, L., et al. (2008). Swyer syndrome, presentation and outcomes. Journal of Obstetrics and Gynecology, 115(6).
[8] Nollman, J. (2013). An intersex story from X to Y. AIS DSD Support Group.
[9] Taneja, J., et al. (2016). Rare successful pregnancy in a patient with Swyer Syndrome.