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A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure

1983; Elsevier BV; Volume: 59; Issue: 3 Linguagem: Inglês

10.1016/0022-510x(83)90022-9

1878-5883

Txomin Arbizu, Joan Santamaría, J Sinibaldi Gómez, Angel Quílez, Jaume Peres Serra,

DNA Repair Mechanisms

Abstract A family with adult spinal and bulbar muscular atrophy with X-linked recessive inheritance (Kennedy's disease) is described. Affected members presented at age 20 with muscle cramps followed insidiously by gynaecomastia, partial loss of secondary sexual traits, loss of libido and inability to maintain an erection. Three had also testicular atrophy and severe oligospermia was found in two patients. Testicular biopsy in one case showed germinal failure with almost normal Leydig cells. Hormonal tests were suggestive of a primary testicular failure. Etiologic possibilities are considered.