A Case of 45 , X/46 , XY Mixed Gonadal Dysgenesis Associated with Azoospermia.

Nam, Y S; Kim, H J; Lee, S H; Kwak, I P; Yoon, T K; Cha, K Y

Original Article

Korean Journal of Obstetrics & Gynecology 1998;41(8):2212-2215.
Published online January 1, 2001.

A Case of 45 , X/46 , XY Mixed Gonadal Dysgenesis Associated with Azoospermia.

Y S Nam, H J Kim, S H Lee, I P Kwak, T K Yoon, K Y Cha

Abstract

Gonadal dysgenesis traditionally has been based upon phenotypically classified syndromes in which one or both gonads become atretic or streaks. In chromosomally competent ovarian (or gonadal) failure (CCOF) the karyotypes are 46,XX or 46,XY with no cytogenetically demonstrable abnormalities. In chromosomally incompetent ovarian (or gonadal) failure (CIOF) cytogenetic abnormalities are present and include 45,X and mosaicisms (45,X/46,XX), partial deletionsof X (46,X, del[Xq], and ring X), structural abnormalities of X (46,X, i[Xq]) or Y with their mosaicisms, and mixed gonadal dysgenesis (45,X/46,XY). The gonadal phenotypes include bilateral streaks, a unilateral streak and a contralateral ovary or testis, and bilateral abdominal or scrotal testes. Somatic phenotypes range from patients with the classic Turner phenotype with short stature and sexual infantilism, though those with limited gonadal function resulting in partial or complete isosexual or heterosexual pubertal changes, to those with normal stature and sexual infantilism. We have experienced a case of mixed gonadal dysgenesis in male infertile patient with azoospermia. So we report this case with a brief review of literatures.

Key Words: Mixed gonadal dysgenesis, Azoospermia