Related Experiment Video

Updated: Feb 9, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

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Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A

Christopher E Gibson1,2, Kara E Boodhansingh1, Changhong Li1

  • 1Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Hormone Research in Paediatrics
|June 15, 2018
PubMed

Insights

Congenital hyperinsulinism is more common in girls with Turner syndrome. This suggests that a gene on the X chromosome, KDM6A, may cause hyperinsulinism in Turner syndrome.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Previous reports suggested a link between congenital hyperinsulinism and Turner syndrome.
  • This study investigates this potential association further.

Purpose of the Study:

  • To examine clinical and molecular features of girls with both congenital hyperinsulinism and Turner syndrome.
  • To determine the frequency of Turner syndrome in patients with hyperinsulinism.

Main Methods:

  • Reviewed medical records of patients with both conditions.
  • Studied insulin secretion in human and mouse islets.
  • Investigated the role of KDM6A, an X chromosome gene.

Main Results:

  • 12 girls with Turner syndrome and hyperinsulinism were identified.
  • Turner syndrome was 48 times more frequent in hyperinsulinism patients than expected.
  • Elevated cytosolic calcium and heightened insulin release were observed, linked to KDM6A inhibition.

Conclusions:

  • Turner syndrome is more frequent in children with hyperinsulinism than previously thought.
  • Haploinsufficiency of KDM6A may cause hyperinsulinism in Turner syndrome patients.
Abstract

Keywords:
Beta cellCongenital hyperinsulinismDiazoxideGeneticsHypoglycemiaPancreatectomyTurner syndromeX chromosome

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