Gonadal agenesis is a rare condition where an individual lacks both

gonads A gonad, sex gland, or reproductive gland is a mixed gland and sex organ that produces the gametes and sex hormones of an organism. Female reproductive cells are egg cells, and male reproductive cells are sperm. The male gonad, the testicle, ...

. If the

karyotype A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by de ...

is 46,XY and the individual otherwise has a male phenotype, it is called anorchia; this occurs in one of 20,000 male births. 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. Absence of both ovaries is much less common than absence of one ovary. Bilateral ovarian agenesis has also been reported to co-occur with MRKH syndrome and

Cantú syndrome Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.Initial posting 2014 Fewer than 50 cases have been described in the literature; they are associated with a mutation in the ''ABCC9''-gene ...

References

Congenital disorders of endocrine system Congenital disorders of genital organs {{Endocrine-disease-stub

See also

References