HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes
-
Petra Dušátková
Abstract
Background: HNF1A-MODY (MODY3) is a common subtype of autosomal dominant diabetes. Unlike HNF4-MODY where fetal macrosomia and early postnatal hyperinsulinemic hypoglycemia have been reported, a history of transient insulin overproduction has not been recognized in individuals with HNF1A-MODY yet.
Case report: Here, we report a 40-year-old male patient with HNF1A mutation p.Arg272His (c.815G>A) with a history of fetal macrosomia (4750 g, 59 cm) and, at least, one attack of symptomatic hypoglycemia in childhood. Diabetes was subsequently diagnosed at 19 years. The proband’s daughter who developed diabetes at 16 years carries the same mutation, but her birth weight and length were in the upper normal range, and she never experienced hypoglycemic symptoms.
Conclusion: The observation of fetal macrosomia and hypoglycemia in childhood is suggestive of a biphasic impact of the HNF1A mutation on β-cell function over the lifespan, leading from inappropriate insulin oversecretion to final clinical diabetes.
©2011 by Walter de Gruyter Berlin Boston
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Articles in the same Issue
- Publisher's Note
- Publisher's Note
- Editorial
- The damage caused by incomplete and uncontrolled medical information
- Images in Pediatric Endocrinology
- Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra
- Original Contributions
- Are adolescent weight-related problems and general well-being essentially an issue of age, gender or rather a pubertal timing issue?
- Comparison of methimazole and propylthiouracil in the management of children and adolescents with Graves’ disease: efficacy and adverse reactions during initial treatment and long-term outcome
- The effect of glucocorticoid replacement therapy on bone mineral density in children with congenital adrenal hyperplasia
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- The role of metabolic syndrome components and adipokines in insulin resistance in prepubertal children
- A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones
- Causes and patterns of referral to a tertiary, multidisciplinary program for the treatment of childhood obesity
- Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome
- Plasma leptin and adiponectin concentrations in healthy, non-obese children
- Puberty and pubertal growth dynamics in children with idiopathic short stature
- Endocrine complications following pediatric bone marrow transplantation
- Rare hypertension as a result of 17α-hydroxylase deficiency
- Girls with early puberty attain a near-final height similar to their target height
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- Short Communications
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- Letter to the Editor
- Meetings
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