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Case Reports
. 2021 Jul 21;14(7):e241907.
doi: 10.1136/bcr-2021-241907.

HIST1H1E syndrome with type 2 diabetes

Mohammed S O Ahmed  1 , Mohammed Rafey  2 , Tara McDonnell  2 , Diarmuid Smith  2   3
Affiliations
Case Reports

HIST1H1E syndrome with type 2 diabetes

Mohammed S O Ahmed et al. BMJ Case Rep. .

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.

Keywords: diabetes; disability; genetics; metabolic disorders; neuroendocrinology.

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Conflict of interest statement

Competing interests: None declared.

References

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