Gonadal agenesis

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 karyotype 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]

See also

• Gonadal dysgenesis
• Hypogonadism
• Monorchism