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PHP<\/jats:styled-content> can be classified into the forms 1A\/C, sporadic 1B and familial 1B.<\/jats:p><\/jats:sec>Objectives<\/jats:title>To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP<\/jats:styled-content> patient population.<\/jats:p><\/jats:sec>Methods<\/jats:title>From 2000 to 2016, 120 patients were recruited and studied using Sanger sequencing, methylation\u2010specific multiple ligation\u2010dependent probe amplification (MS<\/jats:styled-content>\u2010MLPA<\/jats:styled-content>) and combined bisulfite restriction analysis (COBRA<\/jats:styled-content>). Of these patients, 104 had positive molecular alterations indicative of certain forms of PHP<\/jats:styled-content> and were included in data analysis. Clinical and laboratory features were compared between PHP<\/jats:styled-content>1A\/C and PHP<\/jats:styled-content>1B patients.<\/jats:p><\/jats:sec>Results<\/jats:title>Ten PHP<\/jats:styled-content>1A\/C, 21 familial PHP<\/jats:styled-content>1B and 73 sporadic PHP<\/jats:styled-content>1B patients were identified. Four novel GNAS<\/jats:styled-content><\/jats:italic> mutations were discovered in these patients, including c.1038+1G>T, c.530+2T>C, c.880_883delCAAG<\/jats:styled-content> and c.311_312delAAG<\/jats:styled-content>, insT. The most common symptoms in this series were recurrent tetany (89.4%) and epilepsy (47.1%). The prevalence of weight excess increased with age for PHP<\/jats:styled-content>1B (10%\u201035%) and PHP<\/jats:styled-content>1A\/C (50%\u201075%). Intracranial calcification had a prevalence of 94.6% and correlated with seizures (r<\/jats:italic>\u00a0=\u00a0.227, P<\/jats:italic>\u00a0=\u00a0.029). Cataracts occurred in 56.2% PHP<\/jats:styled-content> patients, and there was a trend towards longer disease duration in patients with cataracts (P<\/jats:italic>\u00a0=\u00a0.051). Statistically significant differences (P<\/jats:italic>\u00a0<\u00a0.05) were observed when comparing certain clinical characteristics between PHP<\/jats:styled-content>1B and PHP<\/jats:styled-content>1A\/C patients, including age of onset (10 vs 7\u00a0year), short stature (21.3% vs 70%), rounded face (60.6% vs 100%), brachydactyly (25.5% vs 100%), ectopic ossification (1.1% vs 40%) and TSH<\/jats:styled-content> resistance (44.6% vs 90%), respectively.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>This study is the largest single\u2010centre series of PHP<\/jats:styled-content> patients and summarizes the clinical and genetic features of the Chinese PHP<\/jats:styled-content> population. While there was substantial clinical overlap between PHP<\/jats:styled-content>1A\/C and PHP<\/jats:styled-content>1B, differences in disease progression were observed.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.13516","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T16:28:36Z","timestamp":1510676916000},"page":"285-294","source":"Crossref","is-referenced-by-count":20,"title":["Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population"],"prefix":"10.1111","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8137-587X","authenticated-orcid":false,"given":"Xueying","family":"Chu","sequence":"first","affiliation":[{"name":"Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College (PUMC) Hospital Chinese Academy of Medical Sciences (CAMS) Beijing 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