Leydig cell hypofunction resulting in male pseudohermaphroditism.
An 11-year-old patient with male pseudohermaphroditism presented with essentially normal-appearing female external genitalia. When examined, inguinal gonads, redundant foreskin, and some posterior labial fusion were found. Evaluation revealed basal testosterone (T) levels ranging from 65 to 107 ng/dl with slightly elevated serum gonadotropin levels (luteinizing hormone [LH]: 76 ng/ml, and follicle-stimulating hormone [FSH]: 568 ng/ml). Neither T nor its precursors increased with human chorionic gonadotropin (hCG) stimulation. However, progesterone (P), 17-hydroxyprogesterone (17-OHP), and cortisol (F) responses to adrenocorticotropic hormone (ACTH) were normal. Androgen binding and 5 alpha-reductase activity in cultured genital skin fibroblasts were normal. These data, plus the microscopic finding of a markedly reduced number of Leydig cells, strongly suggest that the male pseudohermaphroditism in this patient was due to inadequate Leydig cell function unrelated to LH receptors.
D000324:Adrenocorticotropic Hormone; D002648:Child; D006063:Chorionic Gonadotropin; D012734:Disorders of Sex Development / Q000503:physiopathology*; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood; D007985:Leydig Cells / Q000502:physiology*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D013739:Testosterone / Q000097:blood
D006063:Chorionic Gonadotropin; D006908:Hydroxyprogesterones; D013739:Testosterone; D000324:Adrenocorticotropic Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D006854:Hydrocortisone