Studies of androgen production and binding in 13 male pseudohermaphrodites and 13 males with micropenis.
We studied androgen production by morphologic and biochemical criteria plus androgen binding by skin fibroblasts in 13 male pseudohermaphrodites and 13 males with micropenis, none of whom had evidence of androgen insensitivity. Seventeen of the 26 patients had evidence of deficient androgen production, suggesting this as the cause of their incomplete virilization in utero. Fibroblasts from all 26 patients demonstrated normal androgen binding and affinity of the steroid for the receptor. Although these results exclude a deficiency of androgen binding in these individuals, other end organ defects are possible. Guidelines for diagnosis and management of such patients are presented.
D000293:Adolescent; D000328:Adult; D000735:Androstenedione / Q000096:biosynthesis*; D002648:Child; D002675:Child, Preschool; D013196:Dihydrotestosterone / Q000378:metabolism*; D012734:Disorders of Sex Development / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D010413:Penis / Q000002:abnormalities*; D011944:Receptors, Androgen; D013739:Testosterone / Q000096:biosynthesis*
D011944:Receptors, Androgen; D013196:Dihydrotestosterone; D013739:Testosterone; D000735:Androstenedione