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Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience

  • Semra Gundogdu ORCID logo , Mustafa Ciftci ORCID logo , Enver Atay ORCID logo , Akif Ayaz ORCID logo , Omer Ceran ORCID logo and Zeynep Atay ORCID logo EMAIL logo
Published/Copyright: November 22, 2022
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 1

Abstract

Objectives

To evaluate and present the data regarding clinical, laboratory, radiological and the results of molecular genetic analysis of patients with hyperinsulinemic hypoglycemia in our clinics.

Methods

A total of 9 patients with CHI followed at Istanbul Medipol University. Data related to gender, age at presentation, birth weight, gestational age, consanguinity, glucose and insulin levels at diagnosis, treatment modalities, response to treatment, the results of genetic analysis and radiological evaluation were gathered from the files.

Results

The oldest age at presentation was 6 months. KATP channel mutation was detected in 55% (n: 5). Diazoxide unresponsiveness was seen in 55% (n: 5). Octreotide was effective in 3 of them. 18F-DOPA PET performed in 4 diazoxide unresponsive patients revealed focal lesion in 3 of them. Spontaneous remission rate was 66% (n:6). All the patients with normal genetic result achieved spontaneous remission. Spontaneous remission was even noted in diazoxide unresponsive patients and in patients with focal lesion on 18F-DOPA PET.

Conclusions

Clinical presentation of patients with congenital hypereinsulinism is heterogeneous. Spontaneous remission rate is quite high even in patients with severe clinical presentation. It is important to develop methods that can predict which patients will have spontaneous remission. Reporting the clinical and laboratory data of each patient is important and will help to guide the management of patients with hyperinsulinemic hypoglycemia.

Keywords: 18F-DOPA PET; congenital hyperinsulinism; diazoxide; KATP channel
Corresponding author: Prof. Dr. Zeynep Atay, MD, Department of Pediatric Endocrinology, Istanbul Medipol University, School of Medicine, Istanbul, Turkey, Tel: +90 505 3945292, E-mail:

  1. Research funding: None declared.

  2. Author contributions: Dr. Gundogdu S managed the treatment of patients in NICU, helped the data collection, drafted the initial manuscript. Dr. Ayaz A performed and evaluated the results of genetic analysis and helped ğreparation of iniatial draft. Dr. Atay E and Dr. Ceran conceptualized and designed the study, drafted the initial manuscript, and reviewed and revised the manuscript. Dr. Atay Z and Dr. Ciftci designed the data collection instruments, coordinated and supervised data collection, and critically reviewed the manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The study is approved by The Ethics Committee of Medipol University (Approval No: E−10840098-772.02-924).

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2022-0155).

Received: 2022-03-23
Accepted: 2022-10-26
Published Online: 2022-11-22
Published in Print: 2023-01-27

© 2022 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

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  2. Editorial
  3. Disorders of sex development – biologic, genetic, cultural, societal, and psychologic diversity of the human nature
  4. Review
  5. Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement
  6. Original Articles
  7. Penile diameter during puberty in boys: a retrospective analysis of longitudinally obtained data
  8. Evaluation of bladder dysfunction in children and adolescents with type 1 diabetes mellitus by uroflowmetry
  9. All aspects of galactosemia: a single center experience
  10. The evolution of pituitary cysts in growth hormone-treated children
  11. Phototherapy-induced hypocalcemia and hypoparathyroidism in icteric term newborns
  12. Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience
  13. Does cystatin C have an immunomodulatory role in Hashimoto’s thyroiditis?
  14. Molecular genetic etiology by whole exome sequence analysis in cases with familial type 1 diabetes mellitus without HLA haplotype predisposition or incomplete predisposition
  15. Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
  16. Case Reports
  17. Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
  18. The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
  19. Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report
  20. Human chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant
  21. Atypical familial diabetes associated with a novel NEUROD1 nonsense variant
https://doi.org/10.1515/jpem-2022-0155
Keywords for this article
18F-DOPA PET; congenital hyperinsulinism; diazoxide; KATP channel

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Disorders of sex development – biologic, genetic, cultural, societal, and psychologic diversity of the human nature
  4. Review
  5. Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement
  6. Original Articles
  7. Penile diameter during puberty in boys: a retrospective analysis of longitudinally obtained data
  8. Evaluation of bladder dysfunction in children and adolescents with type 1 diabetes mellitus by uroflowmetry
  9. All aspects of galactosemia: a single center experience
  10. The evolution of pituitary cysts in growth hormone-treated children
  11. Phototherapy-induced hypocalcemia and hypoparathyroidism in icteric term newborns
  12. Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience
  13. Does cystatin C have an immunomodulatory role in Hashimoto’s thyroiditis?
  14. Molecular genetic etiology by whole exome sequence analysis in cases with familial type 1 diabetes mellitus without HLA haplotype predisposition or incomplete predisposition
  15. Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
  16. Case Reports
  17. Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
  18. The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
  19. Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report
  20. Human chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant
  21. Atypical familial diabetes associated with a novel NEUROD1 nonsense variant
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