KARYOTYPIC ANALYSIS OF A MALE PSEUDOHERMAPHRODITE WITH THE SYNDROME OF FEMINIZING TESTES*

Abstract

A case of clinically diagnosed male pseudohermaphrodism with the syndrome of feminizing testes in a 2 6-month-old child, is presented. Chromosome analysis of tissue biopsy specimens by in vitro culture techniques demonstrated a diploid chromosome number of 46, including an X and a Y chromosome. This finding, in agreement with the findings in other reports, refutes the theory that an XXY sex chromosal constitution accounts for the clinical manifestations of this syndrome. The hypotheses of genetic controls by a sex-linked recessive or a sex-limited autosomal dominant gene have been considered, but the existing genetic evidence is too inadequate to distinguish between the two possibilities.