We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings. Recent genetic advances allowed the identification of the genetic defects responsible for this rather unusual combination of endocrine and neurological involvement.
- gordon holmes syndrome
- cerebellar ataxia
- hypogonadotropic hypogonadism
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Contributors SM produced the first draft of the paper. NH selected the figures and produced the figure legends. MH looked after the patient and identified the genetics lab for screening. All three authors revised the manuscript and read and approved the final version.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed. Reviewed by Simon Hammans, Southampton, UK, and Rajith de Silva, London, UK.
Correction notice This article has been corrected since it was published Online First. ’Dr' has been changed to ’Professor' in the Correspondence section for author ’M Hadjivassiliou'.