{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T05:05:50Z","timestamp":1789621550637,"version":"build-2803163510"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T00:00:00Z","timestamp":1789603200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>\n                    Pseudohypoparathyroidism (PHP) type 1A is a rare inherited disorder characterized by resistance to parathyroid hormone and, typically, features of Albright hereditary osteodystrophy. We report a late-onset case in a 59-year-old woman who presented with cognitive decline, behavioral and psychiatric symptoms, gait instability, and seizure-like episodes. Laboratory tests showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels. Brain imaging revealed symmetrical calcifications in the bilateral basal ganglia, thalami, and periventricular regions, while electroencephalography showed epileptiform discharges. Genetic testing identified a heterozygous missense variant in\n                    <jats:italic>GNAS<\/jats:italic>\n                    , c.285C&amp;gt;G: p.Ser95Arg, which has not been previously reported. Based on the clinical manifestations, biochemical abnormalities, neuroimaging findings, and genetic results, the patient was diagnosed with late-onset atypical PHP type 1A. After treatment with calcium supplementation, calcitriol, and levetiracetam, no further seizures occurred, and serum calcium returned to the normal range, although cognitive improvement was limited. This case suggests that calcium-phosphate metabolism and parathyroid hormone levels should be assessed in adults presenting with symmetrical intracranial calcifications, seizures, or cognitive impairment. Genetic testing may further support early diagnosis and help reduce misdiagnosis.\n                  <\/jats:p>","DOI":"10.3389\/fendo.2026.1925504","type":"journal-article","created":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T04:46:58Z","timestamp":1789620418000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Late-onset atypical pseudohypoparathyroidism type 1A with intracranial calcification and epilepsy associated with a novel GNAS variant: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Daiping","family":"Hua","sequence":"first","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shang","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianfeng","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Taixing Second People\u2019s Hospital","place":["Taizhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Fifth Affiliated Hospital of Anhui University of Chinese Medicine","place":["Lu\u2019an, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yequn","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Fifth Affiliated Hospital of Anhui University of Chinese Medicine","place":["Lu\u2019an, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenming","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine","place":["Hefei, China"]},{"name":"Key Laboratory of Xin\u2019an Medicine, Ministry of Education","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine","place":["Hefei, China"]},{"name":"Key Laboratory of Xin\u2019an Medicine, Ministry of Education","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1038\/s41574-018-0042-0","article-title":"Diagnosis and management of pseudohypoparathyroidism and related disorders: First international consensus statement","volume":"14","author":"Mantovani","year":"2018","journal-title":"Nat Rev 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