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 5α-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.
All Science Journal Classification (ASJC) codes
- Reproductive Medicine
- Obstetrics and Gynecology