gonadal dysgenesis, 46,xymedical dictionary

A syndrome characterised by "streak gonads" in a phenotypic female with a 46,xy karyotype. It is due to a mutation which inhibits the function of the y-borne determinant that would normally cause the indifferent embryonic gonad to differentiate into a testis. The streak gonad is incapable of ovulation or oestrogen secretion. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to the presence of streak gonads with a 46,xx karyotype.

(12 Dec 1998)