Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome

BackgroundNeonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with significant phenotypic variability.Case presentationWe des...

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Bibliographic Details
Main Authors: Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A. L. Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Endocrinology
Subjects:
GLIS3
neonatal diabetes
anemia
exocrine pancreatic insufficiency
cholestasis
megalocornea
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.665336/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.665336/full

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