Congenital defect of 21-alpha hydroxylase is a common enzymatic defect subtended to a cortisol synthesis deficiency, and is a usual feature of the clinical picture named adrenogenital syndrome. Testicular tumors in the adrenogenital syndrome are an uncommon benign disease including multiple, bilateral and usually synchronous nodules rising inside the testis when the steroidal function of the adrenal gland cortex was deficient. Testicular tumors resistant to a medical approach and associated with the adrenogenital syndrome have traditionally been managed with a tumor enucleation or partial orchiectomy in order to exclude a malignant disease. The testicular lesions are often mistaken for Leydig cell tumor, nevertheless the behavior of these latter neoplasms is significantly different with up to 10% of them being malignant. 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 on histological basis. Some immunophenotypic features, including synaptophysin staining, were useful to distinguish testicular tumor of the adrenogenital syndrome from Leydig cell tumor, avoiding a misdiagnosis potentially impacting on patient prognosis.

Leydig cell tumor or adrenal rest tumor of the testes? A case of uncertain diagnosis

Boscolo-Berto R.;Gardiman M.;Iafrate M.;Novara G.
2009

Abstract

Congenital defect of 21-alpha hydroxylase is a common enzymatic defect subtended to a cortisol synthesis deficiency, and is a usual feature of the clinical picture named adrenogenital syndrome. Testicular tumors in the adrenogenital syndrome are an uncommon benign disease including multiple, bilateral and usually synchronous nodules rising inside the testis when the steroidal function of the adrenal gland cortex was deficient. Testicular tumors resistant to a medical approach and associated with the adrenogenital syndrome have traditionally been managed with a tumor enucleation or partial orchiectomy in order to exclude a malignant disease. The testicular lesions are often mistaken for Leydig cell tumor, nevertheless the behavior of these latter neoplasms is significantly different with up to 10% of them being malignant. 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 on histological basis. Some immunophenotypic features, including synaptophysin staining, were useful to distinguish testicular tumor of the adrenogenital syndrome from Leydig cell tumor, avoiding a misdiagnosis potentially impacting on patient prognosis.
2009
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3413524
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