HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7132" target="_blank" >RIV/00064203:_____/11:7132 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/11:00003463 RIV/00064203:_____/11:7133 RIV/00216208:11130/11:7132 RIV/00216208:11130/11:7133
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21823540" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21823540</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes
Original language description
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 beta-cell function over the lifespan, leading from inappropriate insulin oversecretion to fin
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Project
<a href="/en/project/NT11402" target="_blank" >NT11402: Genetic investigation of monogenic diabetes in the Czech Republic: Evaluation of clinical symptoms, treatment and quality of life</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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