Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism.
A case of familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism is described in two 46,XY female sibs. Biochemical and histologic evidence for such diagnosis is presented.
D012734:Disorders of Sex Development / Q000235:genetics*; D005838:Genotype; D006728:Hormones / Q000097:blood; D006801:Humans; D007985:Leydig Cells / Q000473:pathology*; D008297:Male; D010375:Pedigree; D011944:Receptors, Androgen / Q000502:physiology; D013733:Testicular Diseases / Q000235:genetics / Q000473:pathology; D013737:Testis / Q000473:pathology
D006728:Hormones; D011944:Receptors, Androgen