{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:41:48Z","timestamp":1791092508292,"version":"4.1.0"},"reference-count":117,"publisher":"The Endocrine Society","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context:<\/jats:title><jats:p>The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones (primarily PTH) that activate cAMP-dependent pathways via Gs\u03b1 protein. The two main subtypes of PHP, PHP type Ia, and Ib (PHP-Ia, PHP-Ib) are caused by molecular alterations within or upstream of the imprinted GNAS gene, which encodes Gs\u03b1 and other translated and untranslated products.<\/jats:p><\/jats:sec><jats:sec><jats:title>Evidence acquisition:<\/jats:title><jats:p>A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia). The most relevant studies until February 2011 have been included in the review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Evidence synthesis and conclusions:<\/jats:title><jats:p>Despite the first description of this disorder dates back to 1942, recent findings indicating complex epigenetic alterations beside classical mutations at the GNAS complex gene, pointed out the limitation of the actual classification of the disease, resulting in incorrect genetic counselling and diagnostic procedures, as well as the gap in our actual knowledge of the pathogenesis of these disorders. This review will focus on PHP type I, in particular its diagnosis, classification, treatment, and underlying molecular alterations.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2011-1048","type":"journal-article","created":{"date-parts":[[2011,8,4]],"date-time":"2011-08-04T14:02:31Z","timestamp":1312466551000},"page":"3020-3030","source":"Crossref","is-referenced-by-count":243,"title":["Pseudohypoparathyroidism: Diagnosis and Treatment"],"prefix":"10.1210","volume":"96","author":[{"given":"Giovanna","family":"Mantovani","sequence":"first","affiliation":[{"name":"Endocrinology and Diabetology Unit, Department of Medical Sciences, Universit\u00e0 degli Studi di Milano, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071615595389800_B1","first-page":"922","article-title":"Pseudohypoparathyroidism: an example of 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