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Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion
M Adachi1, K Tachibana, M Masuno
1Department of Endocrinology and Metabolism, Kanagawa Children's Medical Centre, Yokohama, Japan.
Insights
Children with hypoparathyroidism (HP) due to 22q11.2 deletion may lack typical symptoms, leading to misdiagnosis. Early identification and monitoring for autoimmune conditions are crucial for these patients.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- 22q11.2 microdeletion presents with variable phenotypes.
- Hypoparathyroidism (HP) is a recognized clinical manifestation of 22q11.2 deletion.
- Accurate diagnosis and management of HP in children with 22q11.2 deletion are essential.
Purpose of the Study:
- To delineate the clinical characteristics of HP in children with 22q11.2 microdeletion.
- To improve diagnostic accuracy and follow-up strategies for affected children.
Main Methods:
- Fluorescence in situ hybridization (FISH) was used to identify 22q11.2 microdeletion in patients diagnosed with HP.
- Clinical data of patients with confirmed 22q11.2 microdeletion and HP were analyzed.
Main Results:
- Ten patients with HP were found to have the 22q11.2 microdeletion.
- Associated conditions included cardiac defects (5/10), recurrent infections (1/10), and cleft palate (1/10).
- Seven patients were diagnosed with HP during infancy, prior to evident facial abnormalities or intellectual issues. Two patients developed Graves disease, and two experienced idiopathic thrombocytopenic purpura.
Conclusions:
- HP due to 22q11.2 deletion can be misdiagnosed as idiopathic, particularly in infants without obvious complications.
- Close follow-up for autoimmune complications is recommended for children with HP and 22q11.2 microdeletion.
Unlabelled:
The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characteristics of such patients. By employing fluorescence in situ hybridization (FISH) to all the patients diagnosed as HP in our clinic, ten possessed the 22q11.2 microdeletion. Among them, the incidence of cardiac defect (5/10), recurrent infection (1/10) and cleft palate (1/10) was modest. Additionally, seven of them had been diagnosed as HP during the infantile period, when their facial abnormality and intellectual problem had not become evident. Notably, two patients were complicated by Graves disease, while the association of idiopathic thrombocytopenic purpura was also observed in two girls.
Conclusion:
HP due to del22q11.2 may be misdiagnosed as idiopathic, especially in an infant who lacks apparent complications like cardiac anomaly. They should be closely followed up for auto-immune complications.