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Gonadal agenesis is a rare condition where an individual lacks both gonads.
If the karyotype is 46,XY and the individual otherwise has a male phenotype, it is called anorchia; this occurs in one of 20,000 male births.[1] The corresponding condition in an individual with a female phenotype and 46,XX phenotype is called bilateral ovarian agenesis. However, gonadal agenesis is more common in people with an 46,XY karyotype.[2]
Absence of both ovaries is much less common than absence of one ovary.[3] Bilateral ovarian agenesis has also been reported to co-occur with MRKH syndrome[4][5] and Cantú syndrome.[6]
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