Familial True Hermaphrodism

Abstract

Three siblings in a single family were found to be true hermaphrodites. Each had a male phenotype and 2 had hypospadias. Two had gynecomastia at puberty. Each had ovarian and testicular tissue in the scrotum. Seminiferous tubular dysgenesis was present in the postpubertal testis. Each patient was chromatin positive, as determined by buccal smears. A female karyotype was present in each sibling. The parents were normal.