Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review

We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene.
Source: Endocrinologia y Nutricion - Category: Endocrinology Source Type: research