Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
-
Melek Yildiz
,
Teoman Akcay
Abstract
Background:
As KATP channel mutations are the most common cause of neonatal diabetes mellitus (NDM) and patients with these mutations can be treated with oral sulfonylureas, empiric therapy is a common practice for NDM patients.
Case presentation:
A non-syndromic, small for gestational age baby born to first-degree consanguineous parents was diagnosed with NDM. Because of hypo- and hyperglycemic episodes and variability in insulin requirement, we initiated a trial of glibenclamide, with a presumptive diagnosis of NDM caused by a KATP channel mutation. However, this empiric sulfonylurea trial did not improve the patient’s glycemic control and resulted in resistance to exogenous insulin. Genetic testing identified a previously reported homozygous INS promoter mutation (c.-331C>G), which was not responsive to sulfonylurea therapy.
Conclusions:
In light of our results, we recommend to confirm the genetic diagnosis as soon as possible and decide on sulfonylurea treatment after a genetic diagnosis is confirmed.
Acknowledgments
Genetic testing for neonatal diabetes was provided by the University of Exeter Medical School Genetics Laboratory with funding from the Wellcome Trust to Professors Andrew Hattersley and Sian Ellard.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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- Frontmatter
- Review
- Vitamin D deficiency in childhood: old lessons and current challenges
- Original Articles
- Brain gray matter volume differences in obese youth with type 2 diabetes: a pilot study
- Prevalence and clinical presentation at the onset of type 1 diabetes mellitus among children and adolescents in AL-Baha region, Saudi Arabia
- Whole blood viscosity and cerebral blood flow velocities in obese hypertensive or obese normotensive adolescents
- The utility of body mass index as an indicator for lipid abnormalities in non-fasting children
- Association of insulin-like growth factor-1 and IGF binding protein-3 with 25-hydroxy vitamin D in pre-pubertal and adolescent Indian girls
- The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
- Clinical follow-up data and the rate of development of precocious and rapidly progressive puberty in patients with premature thelarche
- Age of pubertal events among school girls in Lagos, Nigeria
- Evaluation of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal axis
- PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature
- Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
- Case Reports
- Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
- A rare unbalanced Y:autosome translocation in a Turner syndrome patient
- A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation
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