HIST1H1E syndrome with type 2 diabetes
| Autor: | Mohammed Rafey, Diarmuid Smith, Tara McDonnell, Mohammed S O Ahmed |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Glutamate decarboxylase Type 2 diabetes Histones 03 medical and health sciences Young Adult Ductus arteriosus Diabetes mellitus Intellectual Disability Intellectual disability Medicine Humans 030304 developmental biology Genetic testing 0303 health sciences medicine.diagnostic_test C-Peptide business.industry 030305 genetics & heredity Facies Karyotype General Medicine medicine.disease medicine.anatomical_structure Diabetes Mellitus Type 2 Female business Body mass index |
| Zdroj: | BMJ case reports. 14(7) |
| ISSN: | 1757-790X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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