A Japanese School Urine Screening Program Led to the Diagnosis of -MODY: A Case Report

Overview

Journal Clin Pediatr Endocrinol

Specialty Pediatrics

Date 2024 Feb 1

PMID 38299173

Authors

Akito Hattori

Koji Okuhara

Yasuhiro Shimizu

Tohru Ohta

Shigeru Suzuki

Affiliations

Soon will be listed here.

Abstract

Although mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to are rare. Here, we report a case of -MODY in a 12-yr-old Japanese female. Hyperglycemia was initially detected during a school urine screening program. Subsequent laboratory examinations revealed impaired insulin secretion; however, no islet autoantibodies were detected. Genetic testing of revealed a novel heterozygous variant, c.153G>C, p.Glu51Asp. The patient's father had the same mutation and was diagnosed with diabetes at 46 yr of age. -MODY was suspected, and sulfonylurea administration resulted in adequate glycemic control in the patient. The American College of Medical Genetics and Genomics guidelines classify this variant as likely pathogenic, and the effectiveness of sulfonylureas supports its pathogenicity. The patient could be treated with 0.02-0.03 mg/kg/d of glibenclamide, as this mutation may be responsive to only a small amount of sulfonylurea. A detailed family history and sequencing of causative genes, including , may help diagnose diabetes in school-aged patients.

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