Short stature in a 46,XX male adolescent

We describe a patient with a 46,XX karyotype who was assessed because of sh ort stature and a subnormal rate of linear growth. The patient had normal m ale external genitalia, Endocrinologic analysis revealed elevated levels of luteinizing hormone and follicle-stimulating hormone but an exaggerated go nadotropin response to luteinizing hormone-releasing hormone stimulation. T he growth hormone response to insulin-induced hypoglycemia was also exagger ated. All sequences examined on the sex-determining region Y gene were pres ent. The diagnosis was 46,XX male with the major manifestation of short sta ture.