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Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case Report

Peranteau W.H.a · Ganguly A.b · Steinmuller L.b · Thornton P.b · Johnson M.P.a · Howell L.J.a · Stanley C.A.b · Adzick N.S.a

Author affiliations

aThe Center for Fetal Diagnosis and Treatment, bDivision of Endocrinology/Diabetes, The Children’s Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, Pa., USA

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Fetal Diagn Ther 2006;21:515–518

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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: August 09, 2005
Accepted: December 14, 2005
Published online: November 29, 2006
Issue release date: November 2006

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 0

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT

Abstract

We present the first case of the prenatal diagnosis of congenital hyperinsulinism based on the genetic analysis of known family mutations in the SUR1 gene. An amniocentesis was performed at 16 weeks gestation at which time two mutations in the SUR1 gene were identified consistent with the diagnosis of diffuse hyperinsulinism. The mother was transported to our facility and underwent an elective cesarian section at 38 weeks gestation. The diagnosis was confirmed and treatment was initiated within the first minutes of life. After a short course of failed medical management, the patient underwent a 98% pancreatectomy with subsequent good glycemic control. This case highlights the benefits of the timely in utero diagnosis of hyperinsulinism by mutational analysis.

© 2006 S. Karger AG, Basel


References

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    External Resources
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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: August 09, 2005
Accepted: December 14, 2005
Published online: November 29, 2006
Issue release date: November 2006

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 0

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT


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