Anorchia Associated with Gonadotropin Deficiency

Abstract

We report an anorchic patient with normal male phenotype and 46, XY karyotype. Plasma levels of gonadotropins and testosterone were abnormally low. Administration of human chorionic gonadotropin caused no increase in plasma testosterone, and injection of luteinizing hormone-releasing hormone resulted in a lack of plasma gonadotropin response. Sex-determining region Y was detected by DNA studies of peripheral white blood cells. Laparoscopy revealed absence of testis, Wolffian and Müllerian derivatives. We discuss the embryology and hormone condition in an anorchic patient.