{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T01:13:34Z","timestamp":1782695614488,"version":"3.54.5"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T00:00:00Z","timestamp":1649635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T00:00:00Z","timestamp":1649635200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Pseudohypoparathyroidism (PHP) encompasses a highly heterogenous group of disorders, characterized by parathyroid hormone (PTH) resistance caused by mutations in the <jats:italic>GNAS<\/jats:italic> gene or other upstream targets. Here, we investigate the characteristics of a female patient diagnosed with PHP complicated with hypokalemia, and her family members.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation and gene analysis<\/jats:title>\n                <jats:p>A 27-year-old female patient occasionally exhibited asymptomatic hypocalcemia and hypokalemia during her pregnancy 1\u2009year ago. Seven months after delivery, she experienced tetany and dysphonia with diarrhea. Tetany symptoms were relieved after intravenous calcium gluconate supplementation and she was then transferred to our Hospital. Laboratory assessments of the patient revealed hypokalemia, hypocalcemia and hyperphosphatemia despite elevated PTH levels. CT scanning of the brain revealed globus pallidus calcification. Possible mutations in <jats:italic>GNAS<\/jats:italic> and hypokalemia related genes were identified using WES, exon copies of STX16 were analized by MLPA and the methylation status of <jats:italic>GNAS<\/jats:italic> in three differential methylated regions (DMRs) was analyzed by methylation-specific polymerase chain reaction, followed by confirmation with gene sequencing. The patient was clinically diagnosed with PHP-1b. Loss of methylation in the A\/B region and hypermethylation in the NESP55 region were detected. No other mutations in <jats:italic>GNAS<\/jats:italic> or hypokalemia related genes and no deletions of STX16 exons were detected. A negative family history and abnormal DMRs in <jats:italic>GNAS<\/jats:italic> led to a diagnosis of sporadic PHP-1b of the patient.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Hypokalemia is a rare disorder associated with PHP-1b. Analysis of genetic and epigenetic mutations can aid in the diagnosis and accurate subtyping of PHP.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12902-022-01011-9","type":"journal-article","created":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T12:04:12Z","timestamp":1649678652000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature"],"prefix":"10.1186","volume":"22","author":[{"given":"Shaohan","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingzi","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xihua","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuiya","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0333-181X","authenticated-orcid":false,"given":"Fenping","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,4,11]]},"reference":[{"issue":"10","key":"1011_CR1","doi-asserted-by":"publisher","first-page":"3020","DOI":"10.1210\/jc.2011-1048","volume":"96","author":"G Mantovani","year":"2011","unstructured":"Mantovani G. 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The present study was approved by the Institutional Research Ethics Committee of the Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient and her family members for publication of this Case report and any accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"98"}}