ESPE2023 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
Clinical and genetic characteristics of primary hypoparathyroidism in children：two-center experience in China
Yingxiao Shen 1 , Wei Yang 2 , Qin He 3 , Xiaoqin Xu 1 , Ke Huang 1 , Guanping Dong 4 , Junfen Fu 1 , Haiyan Wei 2 & Wei Wu 1
1Department of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China. 2Department of Endocrinology, The Children’s Hospital, Zhengzhou University, Zhengzhou, China. 3Department of Pediatrics, Shaoxing Second Hospital, Shaoxing, China. 4Department of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hanghou, China
Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.
Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We analyzed the age of onset, initial presentations, endocrine and radiological findings, and genetic etiologies.
Results: The median onset age was 3 years (range 1 day-15 years) and the median time taken from onset to diagnosis was 1 month (range 1 day-10 years). 31 patients were performed genetic tests, among which 25 cases were found to have HP-related variants. There are 11 cases (11/25, 44%) that have 22q11.2 microdeletion, 6 patients have AIRE variations (6/25, 24%), 3 patients have GATA3 variations (3/25, 12%), 2 patients have CaSR variations (2/25, 8%), and the rest 3 patients with mutations of TBCE, PTH, and mitochondrial gene deletion respectively. Convulsion was the most common initial presentation, found in 28 cases, hypocalcemia in 6 cases, tetany in 5 cases, numbness of extremities in 1 case, developmental delay in 3 cases, and misdiagnosed as epilepsy in 2 cases. Laboratory tests showed that the PTH levels of these patients were (8.49±8.25 pg/mL), with decreased serum calcium levels (1.58±0.31 mmol/L) and elevated serum phosphorus levels (2.59±0.63mmol/L). Among the 42 patients who underwent brain CT or MR, 17(17/42, 40.5%) had basal ganglia calcification.
Conclusion: We conducted the largest cohort of childhood HP with genetic diagnosis, and our results indicated that genetic variations account for the majority in pediatric primary hypoparathyroidism, the most common of which is 22q11.2 microdeletion, and clinical manifestations are heterogeneous in childhood and adolescence. Identification of the genetic etiologies of hypoparathyroidism makes it possible to predict patients' outcomes and provide appropriate genetic counseling.
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