title: Bilateral tumors of the testis in 21-alpha hydroxylase deficiency without adrenal hyperplasia.
abstract: Congenital 21-alpha hydroxylase deficiency is a syndrome characterized by a cortisol synthesis deficiency and, rarely, by testicular masses. We present a case of bilateral nodular hyperplasia of the testis without adrenal hyperplasia in a patient affected by 21-alpha hydroxylase deficiency. This mass mimicked a testicular tumor and made differential diagnosis with a Leydig cell tumor extremely difficult. Multiple hard nodules (1 cm in diameter) could be palpated in both testes but were more prominent on the right. After an unsuccessful 30-day trial of an adrenocorticotropic hormone suppression regimen with dexamethasone (0.5 mg/qid), a right total orchifunicolectomy was performed. The final histological diagnosis was that of multiple, well-circumscribed nodules consisting of cord-like and microalveolar-like gonadal stroma, typical of an adrenogenital syndrome, and fibrosis. Differential diagnosis between testicular nodules in patients with congenital adrenal hyperplasia and Leydig cell tumors is a major clinical challenge. In cases of cortisol suppression resistant testicular masses, a serum adrenal hormone profile obtained from the gonadal vein and histology of the testicular nodule (with parenchyma sparing surgery) are recommended to obtain a correct diagnosis.
authors.affiliation: Department of Emergency and Organ Transplantation, Section of Surgical Nephrology and Transplantation, University of Bari, Bari, Italy. battaglia@urologia.uniba.it
authors.forename: Michele
authors.initials: M
authors.lastname: Battaglia
authors.forename: Pasquale
authors.initials: P
authors.lastname: Ditonno
authors.forename: Silvano
authors.initials: S
authors.lastname: Palazzo
authors.forename: Carlo
authors.initials: C
authors.lastname: Bettocchi
authors.forename: Oscar
authors.initials: O
authors.lastname: Selvaggio
authors.forename: Lucio
authors.initials: L
authors.lastname: Garofalo
authors.forename: Francesco Paolo
authors.initials: FP
authors.lastname: Selvaggi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications*; D000328:Adult; D003937:Diagnosis, Differential; D007839:Functional Laterality; D006801:Humans; D006965:Hyperplasia / Q000175:diagnosis; D008297:Male; D016609:Neoplasms, Second Primary / Q000175:diagnosis* / Q000473:pathology*; D013733:Testicular Diseases / Q000175:diagnosis* / Q000473:pathology*; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000473:pathology*