Searchable abstracts of presentations at key conferences in endocrinology

ea0077cc4 | (1) | SFEBES2021

Kennedy’s Disease: An uncommon cause of androgen insensitivity and motor neuropathy

Roulston Gary , McConville John , McHenry Claire

Kennedy’s Disease (KD) or Spinal and Bulbar Muscle Atrophy is a rare X-linked recessive condition due to CAG repeat in the androgen receptor (AR) gene. KD affects males with unaffected female carriers. Reported prevalence in male populations is highly variable; recent data suggests 2.5 in 100,000 with region specific higher prevalence. KD manifests as androgen insensitivity (AI) with features including gynaecomastia and motor signs such as early tremor, facial an...