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[Growth failure in a boy with Klinefelter syndrome and IUGR]

Alicja Korpysz1, Mieczysław Szalecki

  • 1Oddział Endokrynologii Kliniki Pediatrii Instytutu "Pomnik Zdrowia Dziecka" w Warszawie, Warszawa.

Endokrynologia, Diabetologia I Choroby Przemiany Materii Wieku Rozwojowego : Organ Polskiego Towarzystwa Endokrynologow Dzieciecych
|May 18, 2006
PubMed

Insights

Children with Intra-Uterine Growth Retardation (IUGR) and Klinefelter syndrome may experience growth deficiency. This case suggests potential growth hormone/Insulin-like Growth Factor-1 (GH/IGF-1) resistance as a cause.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Growth Disorders

Background:

  • Intra-Uterine Growth Retardation (IUGR) can lead to reduced growth velocity and deficiency in children.
  • The etiology of Growth Hormone (GH)/Insulin-like Growth Factor-1 (IGF-1) resistance remains unclear.
  • Klinefelter syndrome (47XXY) is typically associated with excessive growth due to hypogonadism.

Observation:

  • A 6-year-old boy with Klinefelter syndrome, born at 38 weeks with a birth weight of 2300g, presented with significant growth deficiency.
  • The patient exhibited a phenotype consistent with IUGR.
  • Clonidine test revealed GH levels of 37.4 microIU/ml and IGF-1 of 111 ng/ml.

Findings:

  • An IGF-1 generation test showed a marked increase in IGF-1 levels from 178.1 ng/ml to 360.9 ng/ml.
  • This response suggests that the boy's growth deficiency may not be due to a primary GH deficiency.

Implications:

  • The findings suggest potential GH/IGF-1 resistance as the underlying cause of growth deficiency in this specific case.
  • This case highlights the complexity of growth patterns in children with both IUGR and chromosomal abnormalities like Klinefelter syndrome.
  • Further investigation into GH/IGF-1 signaling pathways is warranted in similar pediatric cases.
Abstract

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