{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:44:26Z","timestamp":1789447466773,"version":"build-2803163510"},"reference-count":53,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T00:00:00Z","timestamp":1185753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2003<\/jats:bold> Pseudohypoparathyroidism type Ia (PHP\u2010Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including short stature and brachydactyly, termed Albright hereditary osteodystrophy (AHO). In affected kindreds, some members may have AHO but not hormone resistance; they are termed as pseudopseudohypoparathyroidism (PPHP). The molecular basis for the disorder is heterozygous inactivating mutation of the <jats:italic>Gs\u03b1<\/jats:italic> gene. In affected families, subjects with both PHP\u2010Ia and PPHP have the same Gs\u03b1 mutations. The skeletal features common to PPHP and PHP\u2010Ia are presumably caused by tissue\u2010specific Gs\u03b1 haploinsufficiency. Other features that distinguish between PPHP and PHP\u2010Ia, such as the multihormone resistance, are presumably caused by tissue\u2010specific paternal imprinting of Gs\u03b1. This suggests that major differences in phenotype between PHP\u2010Ia and PPHP point to specific tissues with Gs\u03b1 imprinting. One such major difference may be cognitive function in PHP\u2010Ia and PPHP.<\/jats:p><jats:p><jats:bold>Design\u2003<\/jats:bold> Description of a large family with PHP\u2010Ia and PPHP.<\/jats:p><jats:p><jats:bold>Patients\u2003<\/jats:bold> Eleven affected subjects with PHP\u2010Ia or PPHP in one family.<\/jats:p><jats:p><jats:bold>Measurements\u2003<\/jats:bold> Cognitive impairment (CI) was defined by a history of developmental delay, learning disability and the Wechsler intelligence scale.<\/jats:p><jats:p><jats:bold>Results\u2003<\/jats:bold> CI occurred only in the five PHP\u2010Ia but not in the six PPHP subjects. Hypothyroidism which occurred in all PHP\u2010Ia subjects was apparently not the cause of CI as it was mild, and was treated promptly. Analysis of additional Israeli cases, and the published cases from the literature, all with documented Gs\u03b1 mutations, revealed that CI is prevalent in PHP\u2010Ia [60 of 77 subjects (79%)] but not in PPHP [3 of 30 subjects (10%)] (<jats:italic>P\u00a0&lt;<\/jats:italic>\u00a01\u00a0\u00d7\u00a010<jats:sup>\u22126<\/jats:sup>).<\/jats:p><jats:p><jats:bold>Conclusion\u2003<\/jats:bold> We suggest that Gs\u03b1 is imprinted in the brain.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2007.03025.x","type":"journal-article","created":{"date-parts":[[2007,9,7]],"date-time":"2007-09-07T20:22:56Z","timestamp":1189196576000},"page":"233-239","source":"Crossref","is-referenced-by-count":66,"title":["Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of 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