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HIST1H1E syndrome with type 2 diabetes
Mohammed S O Ahmed1, Mohammed Rafey2, Tara McDonnell2
1Academic Department of Endocrinology, Beaumont Hospital, Dublin, Ireland osmanahmed.m@hotmail.com.
BMJ Case Reports
|July 22, 2021
Summary
This is the first reported case of type 2 diabetes in a patient with HIST1H1E syndrome. The genetic findings highlight a new association between HIST1H1E protein variants and type 2 diabetes.
Area of Science:
- Genetics
- Endocrinology
- Rare Diseases
Background:
- HIST1H1E syndrome is a rare genetic disorder.
- Type 2 diabetes is a common metabolic disorder.
Observation:
- A 20-year-old woman presented with type 2 diabetes, diagnosed at age 19.
- She exhibited characteristic facial features, hypothyroidism, intellectual disability, and patent ductus arteriosus.
- Genetic testing identified a pathogenic variant in the HIST1H1E gene.
Findings:
- The patient's presentation confirmed HIST1H1E syndrome.
- This case represents the first documented instance of type 2 diabetes in association with HIST1H1E syndrome.
Implications:
- This finding expands the known clinical spectrum of HIST1H1E syndrome.
- It suggests a potential genetic link between HIST1H1E variants and the development of type 2 diabetes.
- Further research is warranted to explore this novel association.
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