ArticleJournal of the Endocrine Society2024
Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.
Article in Journal of the Endocrine Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report.Journal of medical case reports · 2025Article
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6 authors.
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Abstract
Context: Kabuki syndrome (KS) is associated with congenital hyperinsulinism (HI). Objective: To characterize the clinical and molecular features of HI in children with KS. Design: Retrospective cohort study of children with KS and HI evaluated between 1998 and 2023. Setting: The Congenital Hyperinsulinism Center of the Children's Hospital of Philadelphia. Patients: Thirty-three children with KS and HI. Main Outcome Measures: HI presentation, treatment, course, and genotype. Results: Hypoglycemia was recognized on the first day of life in 25 children (76%). Median age at HI diagnosis was 1.8 months (interquartile range [IQR], 0.6-6.1 months). Median age at KS diagnosis was 5 months (IQR, 2-14 months). Diagnosis of HI preceded KS diagnosis in 20 children (61%). Twenty-four children (73%) had a pathogenic variant in Conclusion: Hypoglycemia was recognized at birth in most children with KS and HI, but HI diagnosis was often delayed. HI was effectively managed with diazoxide in most children. In contrast to prior reports, the frequency of variants in
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