{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:50Z","timestamp":1789447430849,"version":"build-2803163510"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,12,10]],"date-time":"2008-12-10T00:00:00Z","timestamp":1228867200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,12,10]],"date-time":"2008-12-10T00:00:00Z","timestamp":1228867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res"],"abstract":"<jats:p>Pseudohypoparathyroidism (PHP) is a rare inherited syndrome frequently associated with Albright\u2019s hereditary osteodystrophy (AHO). We conducted a multicenter study including 71 PHP children and 77 relatives. Erythrocyte Gs\u03b1 biological activity was measured in each patient (normal range 85-110%). 61 patients were classified into four subtypes based on clinical and endocrine data and Gs\u03b1 activity: 45 PHP la, 8 PHP lb, 2 PHP II, and 6 PHP Ic. PHP la had decreased Gs\u03b1 (58 \u00b1 9%), PHP lb patients had PTH resistance, no AHO and normal Gs\u03b1 (96 \u00b1 9%), PHP Ic patients had PTH resistance, AHO and no decreased Gs\u03b1 (97 \u00b1 13%). The 10 remaining patients were considered to have pseudo-pseudohypoparathyroid (Pseudo-PHP) and were divided into two subtypes. One subtype had decreased Gs\u03b1 and the second subtype had normal Gs\u03b1 activity. The heterogeneous expression of Pseudo-PHP and thyrotropin resistance, which preceded parathyroid hormone resistance in 24% of the children, suggested that PHP might be a gradually evolving disease. GRF resistance was found in 4 out of 9 children investigated. The pedigree analysis showed PHP la had a dominant mode of inheritance with increased severity through generations. Pedigree analysis did not support a genomic imprinting hypothesis. Two children out of 9 had a chromosome 2 abnormality. This study confirms that Gs\u03b1 activity is a significant marker in the diagnosis and classification of PHP.<\/jats:p>","DOI":"10.1159\/000185501","type":"journal-article","created":{"date-parts":[[2008,12,11]],"date-time":"2008-12-11T09:35:10Z","timestamp":1228988110000},"page":"120-130","source":"Crossref","is-referenced-by-count":36,"title":["Clinical and Biological Heterogeneity in Pseudohypoparathyroidism Syndrome"],"prefix":"10.1159","author":[{"given":"C.","family":"Marguet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Mallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.P.","family":"Basuyau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ph.","family":"Brunelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,12,10]]},"container-title":["Hormone Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000185501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:35:00Z","timestamp":1777628100000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000185501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,10]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000185501","archive":["Portico"],"relation":{},"ISSN":["0301-0163","1423-0046"],"issn-type":[{"value":"0301-0163","type":"print"},{"value":"1423-0046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,10]]}}}