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Parathyroid function and growth in 22q11.2 deletion syndrome
Raja Brauner1, Agnes Le Harivel de Gonneville, Catherine Kindermans
1Université René Descartes and Pediatric Endocrinology Unit, Fondation-Hôpital Saint Joseph, Paris, France. raja.brauner@wanadoo.fr
The Journal of Pediatrics
|May 21, 2003
Summary
Hypoparathyroidism affects 69% of individuals with 22q11.2 deletion syndrome, often undiagnosed. Short stature in these patients may stem from intrauterine growth restriction and growth hormone deficiency.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- 22q11.2 deletion syndrome is a common genetic disorder with diverse clinical manifestations.
- Hypoparathyroidism and short stature are recognized complications, but their frequency and contributing factors require further elucidation.
Purpose of the Study:
- To determine the prevalence and expression of hypoparathyroidism in 22q11.2 deletion syndrome.
- To identify factors contributing to short stature in this population.
- To optimize clinical management strategies.
Main Methods:
- A cross-sectional study was conducted involving 39 patients with 22q11.2 deletion syndrome.
- Patient age ranged from 2.5 to 20 years (mean 9.7 years).
- Evaluations included assessment of calcium levels, parathyroid hormone (PTH) concentrations, and growth parameters.
Main Results:
- Congenital abnormalities included cardiac defects (33/39), thymus hypoplasia (15/18), and craniofacial dysmorphy (all patients). Seizures occurred in 15 patients (39%).
- Hypoparathyroidism was identified in 27 of 39 (69%) patients, with many cases undiagnosed prior to evaluation.
- Short stature was observed, with low weight/height at birth (26%) and low height/BMI/IGF-I at evaluation (23-37%).
Conclusions:
- Abnormal parathyroid function is highly prevalent in 22q11.2 deletion syndrome, frequently remaining undiagnosed.
- Short stature is likely multifactorial, potentially involving intrauterine growth restriction, underweight, and growth hormone deficiency indicated by low IGF-I levels.