Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
May 2015
in “
Endocrinología y nutrición
”
Studysummary This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene. Our plain-language summary of this paper — not a Tressless recommendation.
The document detailed four cases of Kennedy's disease (KD), a rare X-linked recessive neurodegenerative disorder with symptoms of muscle weakness, atrophy, and bulbar muscle involvement, alongside endocrine symptoms like gynecomastia due to partial androgen insensitivity syndrome. KD is caused by an abnormal expansion of CAG triplet repeats in the androgen receptor gene, with the patients having 50 to 63 repeats. The age of neurological diagnosis ranged from 37 to 62 years. The study highlighted the need to consider KD in patients with progressive neurological symptoms and signs of androgen insensitivity, and it confirmed the diagnosis in all cases through molecular analysis. Hormonal tests indicated various imbalances, including increased serum total testosterone and SHBG, decreased serum free testosterone, and increased serum estrogen levels in three cases. The study suggests that KD should be suspected in adult males with progressive muscle weakness and endocrine changes, and that genetic testing is essential for diagnosis and counseling. The document does not provide the total number of people in the study but focuses on the four cases reported.
