Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome caused by <i>GLIS3</i> mutation: A case report and review of literature-Reference-Cited by-同舟云学术

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome caused by GLIS3 mutation: A case report and review of literature

Published:2022-11-15 Issue: Volume:2 Page:86-89
ISSN:2770-3525
Container-title:Journal of Pediatric Endocrinology and Diabetes
language:en
Short-container-title:JPED

Author:

Pachapure Shaila Sanjay¹,Badiger Shriharsha²,Tadakanahalli Satish²,Franco Elisa De³,Manthale Aishwarya²,Kulkarni Vijay²

Affiliation:

1. Department of Paediatrics, Jawaharlal Nehru Medical College, Belagavi, Karnataka, India,

2. Department of Pediatrics, Shri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Dharwad, Karnataka, India,

3. Department of Genetics, College of Medicine and Health, Institute of Biomedical and Clinical Science, Exeter, United Kingdom,

Abstract

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome (OMIM: 610199) caused by GLIS3 gene mutations is a multisystem disorder. To date, only 23 cases of NDH syndrome have been reported worldwide. We report a child diagnosed on day 24 of life with neonatal diabetes, congenital hypothyroidism, congenital glaucoma, and dysmorphic facial features. Genetic analysis revealed a homozygous pathogenic frameshift variant (p.Gln361Profs*193) in the GLIS3 gene, located on chromosome 9p24.2. Our report confirms that infants with neonatal diabetes and congenital hypothyroidism along with facial dysmorphism should be screened for GLIS3 mutations.

Publisher

Scientific Scholar

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