Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy
- Resource Type
- article
- Authors
- Haruna Akanuma; Suguru Kadowaki; Kazuaki Kanai
- Source
- Frontiers in Neurology, Vol 15 (2024)
- Subject
- testosterone
spinal and bulbar muscular atrophy
Klinefelter syndrome
androgen replacement therapy
leuprorelin
Neurology. Diseases of the nervous system
RC346-429
- Language
- English
- ISSN
- 1664-2295
Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene. It is thought that the nuclear translocation of abnormal AR proteins following binding to testosterone triggers the onset of the disease. We report the case of a patient who had SBMA coincident with Klinefelter syndrome. He developed SBMA symptoms rapidly after receiving androgen replacement therapy for Klinefelter syndrome. No cases of coincident SBMA and Klinefelter syndrome have been reported, and if confirmed by further patients in future, that androgen hormones are strongly associated with the development and progression of SBMA in fact in humans.