Infertility caused by bilateral testicular masses secondary to congenital adrenal hyperplasia (21-hydroxylase deficiency).
Two male cousins with partial 21-hydroxylase deficiency presented with bilateral testicular masses and infertility. In both cases, the testicular masses, consisting of adrenocorticotropic hormone-dependent pluripotential cells, were thought to play a major etiologic role in infertility. The administration of very small doses of dexamethasone, given at 11:00 P.M., led to the disappearance of the masses and a subsequent return of fertility. Although 21-hydroxylase deficiency is not by itself an uncommon condition, the presentation of testicular masses with subsequent reversible infertility in two family members with this condition has not previously been described.
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000328:Adult; D003907:Dexamethasone / Q000008:administration & dosage; D006801:Humans; D007248:Infertility, Male / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D013736:Testicular Neoplasms / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology / Q000378:metabolism
D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D006899:Mixed Function Oxygenases