Evaluation of the Children with Hypoparathyroidism and Pseudohypoparathyroidism Presenting to an Endocrinology Outpatient Clinic
Abstract
Objectives: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to identify a clinical profile, prevalence, laboratory findings, etiologies of hypoparathyroidism, and pseudohypoparathyroidism.
Materials and Methods: Patients with HP and PHP were identified in electronic hospital registries. We noted patient’s laboratory and clinical findings, etiology, renal ultrasonography, and treatment results.
Results: Twenty-six patients were identified, of which 16 were female and 10 were male. Mean age was 8.06 years and average time of the disease was 3.9 years. The most frequent etiologies were primary hypoparathyroidism (39%), the other etiologies were PHP (35%), DiGeorge syndrome (9%), postsurgical (9%), autoimmune polyglandular syndrome (4%), and thalassemia major (4%). All patients were treated with active vitamin D.
Conclusion: Understanding the etiology, diagnosis, and symptoms of hypoparathyroidism may help to improve quality of life and long-term disease outcomes. However, further research is necessary to unravel the causes of idiopathic HP and genetic studies should be easier.
Keywords
References
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