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Testicular Chromosomal Mosaicism and Infertility

The University of Chicago Pritzker School of Medicine and The Biomediccd Center for Population Research Chicago, Illinois 60637

A healthy young man with azoospermia and no other endocrinological abnormalities was shown to have chromosomal mosaicism with the cytogenetic errors found only in testicular tissue. Three clones of cells were identified in both meiosis I and meiosis II by cytogenetic analysis of direct testicular smears. Peripheral blood karyotypes and buccal smear preparations revealed no abnormalities.

It is postulated that the gonadal cytogenetic defects account for this patient's azoospermia. In addition, it is hypothesized that this type of incomplete spermatogenesis nonetheless produces sufficient feedback material ("inhibin") so that FSH levels are not affected.

Presented in part at the 47th Annual Meeting of the Central Society for Clinical Research.

Supported by grants no. HD 07110 and no. RR 55.

¹ Gerald Sokolek fellow in endocrinology.

The authors are indebted to Cecilia Turriff, Barbara Cecil, and Mary Ann Myklebost for their skilled technical assistance.

Received July 16, 1975.

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