FAMILIAL MALE PSEUDOHERMAPHRODISM WITH LABIAL TESTES AND PARTIAL FEMINIZATION: ENDOCRINE STUDIES AND GENETIC ASPECTS

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Abstract
A family is reported in which there were 5 male pseudohermaphrodites in 2 generations. In a given sibling group the males were either all completely normal or all male pseudohermaphrodites. The females were normal. An anti-testis factor, acting in utero to produce male pseudohermaphrodism, and resulting from a dominant heterozygous gene in half of the daughters of affected families has previously been postulated and affords the best explanation of the findings in this family. There was no evidence of endocrine dysfunction in the one male pseudohermaphrodite who was studied. In the 3 who were examined by buccal smear there was no nuclear chromatin. The absence of alkaline phosphatase (histochemical determination) in the testes of one subject was an unexplained and unexpected finding.

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