Abstract:

Objective To explore clinical characteristics of patients with pseudohypoparathyroidism, improve the understandings on the disease, and lower the clinical misdiagnosis rate. Methods Clinical data, diagnosis and treatment of a case of pseudohypoparathyroidism type Ia complicated with congenital hypothyroidism were analyzed retrospectively, and related literatures were reviewed.Results The 9-year-old boy was diagnosed with congenital hypothyroidism since childhood, and was misdiagnosed as epilepsy for years due to repeated convulsions. The laboratory examinations showed the patient had low blood calcium, high blood phosphorus and high parathyroid hormone, who was diagnosed to suffer from pseudohypothyroidism type Ia with congenital hypothyroidism by combining clinical characteristics and gene sequencing results. The patient was treated with calcium supplementation, active vitamin D and levothyroxine sodium and had relieved symptoms.Conclusion Pseudohypoparathyroidism is a rare genetic disease, and it is clinically manifested to be complicated and high misdiagnosis rate and missed diagnosis rate.Children with unexplained epilepsy blood calcium, phosphorus and parathyroid hormone detections at earliest convenience to detect and treat early.

Key words: pseudohypoparathyroidism, hypothyroidism, hypocalcemia