{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:45:08Z","timestamp":1790279108008,"version":"4.1.0"},"reference-count":66,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T00:00:00Z","timestamp":1693872000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary osteodystrophy. Unawareness of this rare disease leads to delays in diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>The aims of this study were to describe the clinical and molecular characteristics of patients with genetically confirmed GNAS mutations and to evaluate their long-term outcomes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective search for all patients diagnosed with PHPIA in 2 referral centers in Israel was conducted.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Nine children (8 females) belonging to 6 families were included in the study. Five patients had GNAS missense mutations, 2 had deletions, and 2 had frameshift mutations. Four mutations were novel. Patients were referred at a mean age of 2.4 years due to congenital hypothyroidism (5 patients), short stature (2 patients), or obesity (2 patients), with a follow-up duration of up to 20 years. Early obesity was observed in the majority of patients. Elevated parathyroid hormone was documented at a mean age of 3 years; however, hypocalcemia became evident at a mean age of 5.9 years, about 3 years later. All subjects were diagnosed with mild to moderate mental retardation. Female adult height was very short (mean \u22122.5 SD) and 5 females had primary or secondary amenorrhea.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Long-term follow-up of newborns with a combination of congenital hypothyroidism, early-onset obesity, and minor dysmorphic features associated with PHPIA is warranted and molecular analysis is recommended since the complete clinical phenotype may develop a long time after initial presentation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad524","type":"journal-article","created":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T17:45:59Z","timestamp":1693935959000},"page":"424-438","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type 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Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussein","family":"Majdoub","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit, Clalit Health Services , 35024 Haifa and Western Galilee District , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kineret Mazor","family":"Aronovitch","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit, The Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52620 Ramat-Gan , Israel"},{"name":"Sackler School of Medicine, Tel-Aviv University , 69978 Tel-Aviv , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilana","family":"Koren","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit, Clalit Health Services , 35024 Haifa and Western Galilee District , Israel"},{"name":"The Rappaport Faculty of Medicine, Technion, Institute of Technology , 32000 Haifa , 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