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Article

A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2016

Chai-Udom Rapeepun, Sahakitrungruang Taninee, Wacharasindhu Suttipong, Supornsilchai Vichit

Abstract excerpt

Mauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11. She was initially treated successfully with glipizide at a dose of 0.85 mg/kg/day...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dose-Response Relationship, Drug

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Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 27428845
DOI: 10.1515/jpem-2016-0065

Genes

KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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