skip to main content

FXTAS – Endocrine Features — SCE Neurology MCQ

Instant feedback + full explanation. One question, done properly.

HardNeurogeneticsFXTAS – Endocrine FeaturesSCE Neurology

A 45-year-old man presents with progressive gait ataxia and dysarthria over 5 years. He has a postural and action tremor of both hands. His mother had dementia and ataxia. MRI brain shows cerebellar atrophy. Genetic testing shows a pathological CGG premutation (85 repeats) in the FMR1 gene. He has mildly elevated serum FSH. What additional clinical feature should be specifically asked about?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: D — Erectile dysfunction and reduced libido due to primary hypogonadism

FXTAS patients commonly have primary hypogonadism with elevated FSH, leading to erectile dysfunction and reduced libido. This is a recognised endocrine feature of FMR1 premutation carriers in males, alongside the neurological features (intention tremor, cerebellar ataxia, parkinsonism, cognitive decline, peripheral neuropathy, autonomic dysfunction). Female premutation carriers may develop primary ovarian insufficiency. A: Visual hallucinations are more typical of DLB. C: Hearing loss is not a primary feature. D: Seizures are not a cardinal feature. E: Skin rash is not associated.

Reference: ABN Ataxia Guidelines; EFNS FXTAS Consensus