{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T02:57:21Z","timestamp":1762052241810,"version":"build-2065373602"},"reference-count":34,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,5,15]],"date-time":"2022-05-15T00:00:00Z","timestamp":1652572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Yeungnam University Research","award":["219A580048"],"award-info":[{"award-number":["219A580048"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia. Since hypocalcemia causes life-threatening events, early diagnosis is crucial. However, the diagnosis of PHP is elusive during infancy because PHP is usually diagnosed with hypocalcemia-induced symptoms, which develop later in childhood when calcium requirements increase. A 1-month-old girl was referred to our clinic for elevated thyroid-stimulating hormone (TSH) levels on newborn screening. When measured 1 month after levothyroxine treatment, her TSH level normalized. At 4-months-old, multiple hard nodules were noted on her trunk. A punch skin biopsy revealed osteoma cutis associated with Albright\u2019s hereditary osteodystrophy, a major characteristic of PHP. We performed targeted sanger sequencing of the GNAS gene and detected a heterozygous variant c.150dupA (p.Ser51Ilefs*3) in both the proband and her mother, causing frameshift and premature termination mutations. The patient was diagnosed with PHP Ia when she had normal calcium, phosphorous, and PTH levels. We report the early diagnosis of PHP Ia without hypocalcemia. It emphasizes the importance of meticulous physical examination in patients with congenital hypothyroidism.<\/jats:p>","DOI":"10.3390\/children9050723","type":"journal-article","created":{"date-parts":[[2022,5,15]],"date-time":"2022-05-15T09:48:22Z","timestamp":1652608102000},"page":"723","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant"],"prefix":"10.3390","volume":"9","author":[{"given":"Su Kyeong","family":"Hwang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu 37224, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5047-3493","authenticated-orcid":false,"given":"Ye Jee","family":"Shim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Daegu 37224, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Hwan","family":"Oh","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan 50612, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2226-9268","authenticated-orcid":false,"given":"Kyung Mi","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yeungnam University School of Medicine, Yeungnam University Hospital, Daegu 42415, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3020","DOI":"10.1210\/jc.2011-1048","article-title":"Clinical review: Pseudohypoparathyroidism: Diagnosis and treatment","volume":"96","author":"Mantovani","year":"2011","journal-title":"J. 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