Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother
-
Elpis-Athina Vlachopapadopoulou
,
Eirini Dikaiakou
Abstract
Objectives
Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.
Case Presentation
In this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes.
Conclusion
Genetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The authors have no conflict of interest to disclose, and no other funding or financial relationship.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original Articles
- The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum
- PATRO children, a multi-center, non-interventional study of the safety and effectiveness of Omnitrope® (somatropin) treatment in children: update on the United States cohort
- Effect of vitamin K2 and vitamin D3 on bone mineral density in children with acute lymphoblastic leukemia: a prospective cohort study
- Diagnostic utility of fine needle aspiration cytology in pediatric thyroid nodules based on Bethesda Classification
- Ultrasonographic determination of thyroid volume in infants and children from Aegean region of Turkey and comparison with national and international references
- Association of thyroid autoimmunity and the response to recombinant human growth hormone in Turner syndrome
- Evaluating transition in Turner syndrome in the West of Scotland
- Short-term effects of gonadotropin-releasing hormone analogue treatment on leptin, ghrelin and peptide YY in girls with central precocious puberty
- Metabolic syndrome and risk factors after hematopoietic stem cell transplantation in children and adolescents
- Urinary bisphenol A levels in prepubertal children with exogenous obesity according to presence of metabolic syndrome
- Associations of insulin-induced lipodystrophy in children, adolescents, and young adults with type 1 diabetes mellitus using recombinant human insulin: a cross-sectional study
- Incidence of diabetes in children and adolescents in Dhaka, Bangladesh
- Case Reports
- False-positive very long-chain fatty acids in a case of autoimmune adrenal insufficiency
- Prepubescent unilateral gynecomastia secondary to excessive soy consumption
- Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother
- Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
