Genotype-Treatment Correlations in Iranian Children with Congenital Hyperinsulinism: A Single-Center Cohort Study
Authors' conclusion
Our findings demonstrate a significant correlation between genetic etiology and treatment response in children with CHI. Early genetic diagnosis may play a critical role in predicting therapeutic outcomes, guiding individualized treatment strategies, and avoiding unnecessary delays in definitive management. These results should be interpreted with caution given the small sample size and the rarity of certain genotypes.
Study context
- Population
- Neonates and children (1 week to 18 years) with biochemically confirmed congenital hyperinsulinism (CHI) and genetic testing by next-generation sequencing; median age at diagnosis 11 months (IQR: 5–42)33 analysed
- Participants
- 35 neonates
- Exposure
- Genotype groups vs treatment response
- Outcome
- Association between genotype and treatment response (diazoxide alone, combination medical therapy, or pancreatectomy)
Methodological detailssingle-centre, tertiary pediatric referral center, Sept 2023 to Sept 2024, 2 patients without pathogenic/likely pathogenic variants excluded
- Single-centre
- Tertiary pediatric referral center
- Sept 2023 to Sept 2024
- 2 patients without pathogenic/likely pathogenic variants excluded
Main finding
As reported in the abstract
- Significant association between genotype and treatment response
- p = 0.026
Observational data: associations, not effects.
Further findings
Treatment response, whole cohort
- Diazoxide monotherapy effective
- 60.6% (20/33)
- Required diazoxide + octreotide
- 18.2% (6/33)
- Refractory to medical treatment, required surgery
- 21.2% (7/33)
Most frequent variants
- Pathogenic/likely pathogenic variants most frequent in ABCC8 and HK1
Original publication
Genotype-Treatment Correlations in Iranian Children with Congenital Hyperinsulinism: A Single-Center Cohort Study. Horm Res Paediatr. Published 16 June 2026. doi:10.
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