A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure
- 31 May 1983
- journal article
- research article
- Published by Elsevier BV in Journal of the Neurological Sciences
- Vol. 59 (3), 371-382
- https://doi.org/10.1016/0022-510x(83)90022-9
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 gynecomastia, partial loss of secondary sexual traits, loss of libido and inability to maintain an erection. Three also had testicular atrophy and severe oligospermia was found in 2 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.This publication has 19 references indexed in Scilit:
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