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Parathyroid gland dysfunction in 22q11.2 deletion syndrome
Fayza Al-Jenaidi1, Outi Makitie, Eyal Grunebaum
1Division of Endocrinology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Hormone Research
|October 24, 2006
Summary
22q11 deletion syndrome (22q11DS) frequently causes partial hypoparathyroidism (HPT). Hypocalcemic seizures may predict complete HPT, necessitating early screening for this condition in affected individuals.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Immunology
Background:
- 22q11 deletion syndrome (22q11DS) is a genetic disorder.
- It is associated with heart defects, thymus and parathyroid hypoplasia.
- These lead to variable hypoparathyroidism (HPT) and immune deficiency.
Purpose of the Study:
- To investigate the progression of HPT in 22q11DS patients.
- To identify other associated manifestations.
- To determine predictors of HPT severity.
Main Methods:
- Retrospective study of 18 patients with 22q11DS and HPT.
- Confirmed diagnosis using fluorescence in situ hybridization.
- Clinical assessment and hospital record review.
Main Results:
- HPT was complete in 61% and partial in 39% of patients.
- Complete HPT patients were diagnosed later and had more seizures.
- Other associated manifestations did not differ between groups.
Conclusions:
- HPT in 22q11DS is often partial.
- Hypocalcemic seizures can predict complete HPT.
- Active screening for hypocalcemia is crucial in 22q11DS patients.
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