{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T09:28:59Z","timestamp":1773480539488,"version":"3.50.1"},"reference-count":8,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":39,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>PTH resistance is characterized by hypocalcemia and hyperphosphatemia in the presence of elevated PTH concentrations, resulting in pseudohypoparathyroidism, which is subdivided into different types according to its different pathogenesis and phenotype. PTH receptor is the alpha subunit of stimulatory G protein (Gs\u03b1)-coupled receptor. Pathogenic variants of GNAS gene, encoding for Gs\u03b1, lead to reduced Gs\u03b1 function and PTH resistance. We report a patient with PHP type 1a, with no documented evidence of hypocalcemia, presenting with AHO phenotype and multihormone resistance to PTH, TSH, and GnRH. Her genetic testing showed a novel heterozygous pathogenic variants, a c.934T &amp;gt; G change in exon 11 in adenylate cyclase stimulatory G protein that has not been reported in the literature so far.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad088","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T11:44:52Z","timestamp":1691581492000},"source":"Crossref","is-referenced-by-count":1,"title":["Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6376-0272","authenticated-orcid":false,"given":"Goutami","family":"Mangu","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Texas Tech University Health Sciences Center , Odessa, TX 79765 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5332-4680","authenticated-orcid":false,"given":"Sonika","family":"Malik","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolism, Texas Tech University Health Science Center , Odessa, TX 79765 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6483-9775","authenticated-orcid":false,"given":"Vijay","family":"Eranki","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolism, Texas Tech University Health Science Center , Odessa, TX 79765 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"issue":"7","key":"2023080911444504100_luad088-B1","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1210\/js.2019-00073","article-title":"Resistance to GHRH but not to PTH in a 15-year-old boy with pseudohypoparathyroidism 1A","volume":"3","author":"Munteanu","year":"2019","journal-title":"J Endocr Soc"},{"issue":"5","key":"2023080911444504100_luad088-B2","doi-asserted-by":"crossref","first-page":"E996","DOI":"10.1210\/jc.2012-4164","article-title":"Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism","volume":"98","author":"Fernandez-Rebollo","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2023080911444504100_luad088-B3","doi-asserted-by":"crossref","first-page":"4070","DOI":"10.1210\/jc.2002-022028","article-title":"Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs\u03b1 gene","volume":"88","author":"Mantovani","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2023080911444504100_luad088-B4","first-page":"3254","article-title":"Identification of two novel deletion mutations within the Gs\u03b1 gene (GNAS1) in Albright hereditary osteodystrophy","volume":"84","author":"Yu","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2023080911444504100_luad088-B5","doi-asserted-by":"crossref","first-page":"3020","DOI":"10.1210\/jc.2011-1048","article-title":"Pseudohypoparathyroidism: diagnosis and treatment","volume":"96","author":"Mantovani","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2023080911444504100_luad088-B6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12902-020-00651-z","article-title":"A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report","volume":"21","author":"Lu","year":"2021","journal-title":"BMC Endocr Disord"},{"issue":"1","key":"2023080911444504100_luad088-B7","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/humu.22696","article-title":"GNAS mutations in pseudohypoparathyroidism type 1a and related disorders","volume":"36","author":"Lemos","year":"2015","journal-title":"Hum Mutat"},{"issue":"1","key":"2023080911444504100_luad088-B8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12881-018-0648-z","article-title":"Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia","volume":"19","author":"Long","year":"2018","journal-title":"BMC Med Genet"}],"container-title":["JCEM Case 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