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Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome

Juan Lasprilla-Tovar1, Nora Alejandra Zuluaga2, Carolina Forero2

  • 1HOMI Fundacion Hospital Pediatrico la Misericordia, Pediatric Endocrinologist, Colombia, South America

Journal of Clinical Research in Pediatric Endocrinology
|August 19, 2022
PubMed

Insights

Children with 22q11 deletion syndrome frequently experience endocrine issues like hypoparathyroidism and growth problems. Early, multidisciplinary follow-up is crucial for managing these conditions and preventing complications.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Clinical Medicine

Background:

  • 22q11 deletion syndrome is associated with various endocrine abnormalities.
  • Common manifestations include growth retardation, hypoparathyroidism, and thyroid dysfunction.

Purpose of the Study:

  • To characterize endocrine abnormalities in a Colombian cohort of children with 22q11 deletion syndrome.
  • To assess the prevalence and types of endocrine disorders in this population.

Main Methods:

  • Retrospective study of a cohort of children diagnosed with 22q11 deletion syndrome.
  • Data collected from 2011 to 2017 in Medellín, Colombia.
  • Analysis of endocrine manifestations and growth patterns.

Main Results:

  • Thirty-seven patients were included; 37.8% exhibited endocrinopathies.
  • Hypoparathyroidism (21.6%) was most frequent, followed by hypothyroidism (13.5%).
  • Short stature was primarily linked to nutritional factors; late-onset hypocalcemia occurred in some patients.

Conclusions:

  • A significant proportion of patients with 22q11 deletion syndrome present endocrine abnormalities.
  • Multidisciplinary follow-up guided by clinical guidelines is essential for preventing severe complications like seizures.
  • Regular growth monitoring using syndrome-specific charts is recommended.
Abstract

Keywords:
22q11 deletion syndromeDiGeorge syndromehypoparathyroidismhypothyroidismgrowth disordersendocrine systemdiseases

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