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Abstract
A 20-year-old woman was referred to the diabetes clinic with type 2 diabetes diagnosed at the age of 19. Her body mass index was 31.4 kg/m2, HbA1C was 76 mmol/mol, GAD antibodies were negative with a detectable C-peptide. She had a characteristic facial appearance with widespread eyes, posterior hairline suggesting a facial gestalt and abnormal dentition. She also had hypothyroidism, mild intellectual disability, primary amenorrhoea and patent ductus arteriosus. Karyotyping reported normal 46XX karyotype. Genetic testing revealed a pathogenic variant in the gene encoding the HIST1H1E protein which confirmed her diagnosis of HIST1H1E syndrome. Type 2 diabetes has not been reported in previous cases of HIST1H1E and so this is the first reported case of type 2 diabetes with HIST1H1E syndrome.
- diabetes
- metabolic disorders
- genetics
- neuroendocrinology
- disability
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Footnotes
Twitter @DrMoSalahAhmed
Contributors MSOA reviewed the case, obtained consent, performed literature review, wrote and submitted the report. MR performed literature review and wrote the initial case summery. TM reviewed the patient’s investigation, reviewed and commented and made additions to the report and provided assistance in the submission process. DS has critically reviewed the case report and added further clinical data and provided the final approval for submission.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.