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2761138 
Journal Article 
A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure 
Arbizu, T; Santamaría, J; Gomez, JM; Quílez, A; Serra, JP 
1983 
Yes 
Journal of the Neurological Sciences
ISSN: 0022-510X
EISSN: 1878-5883 
59 
3 
371-382 
English 
6683750 
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.