Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age
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Tuğba Kontbay
und
Hüseyin Demirbilek
Abstract
Objectives
Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes present within the first six months of life. NDM can be transient (TNdM) or permanent (PNDM). About 70% of TNDM cases have abnormalities in the imprinted region of chromosome 6q24. In TNDM, diabetes remits at infancy whilst may relapse later in life. Chromosome 6q24 related TNDM usually relapses at the pubertal period, while in some cases, relapse occurs earlier. It has been reported that these cases can respond to sulfonylurea treatment, while more evidence and experience are needed.
Case presentation
Herein, we reported relapse of diabetes at prepubertal age and its response to sulphonylurea therapy in a case with TNDM due to a homozygous c.7734C>T (p.R228C) variant in the ZFP57 gene.
Conclusions
A response to the sulphonylurea monotherapy seems not optimal for relapsed TNDM due to chromosome 6q24 abnormalities.
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Research funding: None declared.
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Author contribution: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: Not applicable.
References
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© 2022 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- Impact of Obesity on Bone Metabolism in Children
- Mini Review
- Late sequelae of drug reaction with eosinophilia and systemic symptoms (DRESS) cause thyroid dysfunction and thyroiditis: review of literature
- Original Articles
- Moderating effect of bone maturation on the relationship between body fat and insulin resistance
- Prevalence of nephropathy in Indian children and youth with type 1 diabetes mellitus
- Initial neutrophil/lymphocyte and lymphocyte/monocyte ratios can predict future insulin need in newly diagnosed type 1 diabetes mellitus
- Subcutaneous adipose tissue is a positive predictor for bone mineral density in prepubertal children with Prader–Willi syndrome independent of lean mass
- The attitudes, experiences, and self-competencies of pediatric endocrinology fellows and attending physicians regarding diabetes technology: the Turkey experience
- Adiposity measures in screening for metabolic syndrome among Chinese children and adolescents
- Increased anxiety symptoms in pediatric type 1 diabetes during the acute phase of COVID-19 lockdown
- Pediatric adrenal insufficiency: thirty years experience at a Portuguese hospital
- Spectrum of PAH gene mutations and genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey
- Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term
- Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene
- An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey
- Primary hypertriglyceridemia induced pancreatitis in a cohort of Pakistani children
- Investigation of the relationship between serum sclerostin and dickkopf-1 protein levels with bone turnover in children and adolescents with type-1 diabetes mellitus
- Case Reports
- Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis
- A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity
- Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child
- Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age
Artikel in diesem Heft
- Frontmatter
- Review Article
- Impact of Obesity on Bone Metabolism in Children
- Mini Review
- Late sequelae of drug reaction with eosinophilia and systemic symptoms (DRESS) cause thyroid dysfunction and thyroiditis: review of literature
- Original Articles
- Moderating effect of bone maturation on the relationship between body fat and insulin resistance
- Prevalence of nephropathy in Indian children and youth with type 1 diabetes mellitus
- Initial neutrophil/lymphocyte and lymphocyte/monocyte ratios can predict future insulin need in newly diagnosed type 1 diabetes mellitus
- Subcutaneous adipose tissue is a positive predictor for bone mineral density in prepubertal children with Prader–Willi syndrome independent of lean mass
- The attitudes, experiences, and self-competencies of pediatric endocrinology fellows and attending physicians regarding diabetes technology: the Turkey experience
- Adiposity measures in screening for metabolic syndrome among Chinese children and adolescents
- Increased anxiety symptoms in pediatric type 1 diabetes during the acute phase of COVID-19 lockdown
- Pediatric adrenal insufficiency: thirty years experience at a Portuguese hospital
- Spectrum of PAH gene mutations and genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey
- Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term
- Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene
- An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey
- Primary hypertriglyceridemia induced pancreatitis in a cohort of Pakistani children
- Investigation of the relationship between serum sclerostin and dickkopf-1 protein levels with bone turnover in children and adolescents with type-1 diabetes mellitus
- Case Reports
- Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis
- A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity
- Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child
- Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age
