Article Text
PDF
Abstract
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
Statistics from Altmetric.com
Footnotes
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'.
Linked Articles
- Editors’ commentary
Read the full text or download the PDF:
Other content recommended for you
- Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
- Rare case of Gordon Holmes syndrome
- Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male
- Adult-onset reversible idiopathic hypogonadotropic hypogonadism in male adult carrying a WDR11 missense mutation
- The effects of opioids on the endocrine system: an overview
- Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
- Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1
- A case of Kallmann syndrome
- Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
- Klinefelter’s syndrome