Gonadotropins are elevated once the normal time of puberty is reached, while testosterone remains in the low-normal to low range. Early correction of cryptorchidism is indicated to try to prevent malignancy or testicular torsion. In Leydig cell aplasia, congenital absence of Leydig cells is a cause of male pseudohermaphroditism associated with ambiguity of the external genitalia. Although there is some wolffian duct development, there is insufficient testosterone production to induce normal male differentiation of the external genitalia. Elevated gonadotropins and low testosterone concentrations are found, and there is no rise in circulating testosterone after hCG injections.
Testes are often small or cryptorchid.
Testosterone may be low with high gonadotropin levels. In addition to the muscle weakness and atrophy, frontal balding, mental retardation, cataracts, diabetes mellitus, primary hypoparathyroidism, and cranial hyperostosis may be found. As with other causes of primary hypogonadism, gonadotropins are elevated and testosterone levels are low or low-normal. In adolescents or adults, a semen sample collected by masturbation 2 days after abstinence from ejaculation provides an excellent index of seminiferous tubular function. These congenital problems may be associated with congenital adrenal hyperplasia and can cause varying degrees of ambiguity of the external genitalia, ie, male pseudohermaphroditism.