ESPE2024 Poster Category 1 Bone, Growth Plate and Mineral Metabolism 1 (11 abstracts)
Clinical and genetic characteristics of primary hypoparathyroidism in children a multicenter experience in China
Yingxiao Shen 1 , Wei Yang 2 , Qin He 3,4 , Xiaoqin Xu 1 , Yan Sun 5 , Zhihua Wang 6 , Xiaohong Yang 7 , Guanping Dong 1 , Ke Huang 1 , Haiyan Wei 2 , Wei Wu 1 & Junfen Fu 1
1Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China. 2Department of Endocrinology, Genetics and Metabolism, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Henan Key Laboratory of Pediatric Genetics and Metabolic Diseases, Zhengzhou, China. 3Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China. 4Department of Pediatrics, The General Hospital of Shaoxing Second Hospital Medical Community, Shaoxing, China. 5Department of Pediatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China. 6Department of Emdocrinology, Genetics and Metabolism, Xi’an Children’s Hospital, Xi'an, China. 7Department of Endocrine Genetics and Metabolism, Fuzhou Children′s Hospital of Fujian Medical University, Fuzhou, China
This study was aimed to analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from five medical centers in China. We performed a multicenter retrospective analysis of 74 patients diagnosed with pediatric primary hypoparathyroidism from 2014 to 2023 recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients’ records. WES, MLPA and CMA were utilized to identify the genetic causes. Results show that the median onset age was (6.07±4.82) years and median age of diagnosis was (6.91±4.88) years old. Of the 46 patients who underwent genetic tests, 35 cases were found to have pathogenic variants related to hypoparathyroidism. There are 19 cases (19/46, 41.30%) have 22q11.2 microdeletion, other variations including AIRE (8/46, 17.39%), GATA3 (3/46, 6.52%), CaSR (2/46, 4.34%), and the rest 3 patients with mutations of TBCE, PTH and mitochondrial gene deletion respectively. Convulsion was the most common initial presentation, found in 43 cases. The non-DGS group having the lowest serum PTH levels, compared to DGS group and gene-negative group. Among the 66 patients who underwent cranial CT or MR, 26 (26/66, 39.99%) had intracranial calcification. Among 19 DGS patients, 7 cases (36.8%,7/19) were short stature (<-2SD), two were treated with rhGH, one gave up treatment after half a year with a low growth rate, the other one whose height caught up from -2.33SD to -0.71SD after 3 years of rhGH treatment. We reported the largest cohort of childhood hypoparathyroidism with genetic diagnosis to support the opinion that genetic disorders accounts for the majority of primary hypoparathyroidism in children, the most common of which is 22q11.2 microdeletion. Our finding suggests that identification of the genetic etiologies of hypoparathyroidism is necessary to predict patients’ outcomes and provide targeted treatment, including using recombinant human PTH.
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