{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T08:55:02Z","timestamp":1790585702854,"version":"4.1.0"},"reference-count":26,"publisher":"Walter de Gruyter GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0029_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Inactivating parathyroid hormone (PTH)\/PTHrP Signalling Disorder Type 1 (iPPSD1) is a rare genetic condition caused by loss-of-function mutations in the\n                      <jats:italic>PTH1R<\/jats:italic>\n                      gene, presenting with PTH resistance and variable skeletal and dental manifestations. The gene is catalogued under OMIM *168468. Compound heterozygous variants are exceptionally rare and associated with severe phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0029_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a 9-year-old female from the Indian subcontinent presenting with primary failure of tooth\u00a0eruption, dental anomalies, valgus deformity, and PTH resistance with subclinical hypothyroidism. Whole exome sequencing identified novel compound heterozygous variants in exons 8 and 9 of the\n                      <jats:italic>PTH1R<\/jats:italic>\n                      gene (NM_002820.4: c.557G&gt;A [p.Arg186His] and c.686delC [p.Phe230fs*6], confirmed in trans), confirmed by Sanger sequencing and absent from major population databases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0029_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This is the first reported case of a compound heterozygous PTH1R variant in the Indian population, expanding the known allelic spectrum of iPPSD1 and highlighting the importance of genetic diagnosis in guiding clinical management. Early molecular diagnosis enabled appropriate multidisciplinary management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0029","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T17:55:32Z","timestamp":1787162132000},"source":"Crossref","is-referenced-by-count":0,"title":["Case report: compound heterozygous\n                    <i>PTH1R<\/i>\n                    variant(s) in a patient with inactivating PTH\/PTHrP signalling disorder type 1 (iPPSD1)"],"prefix":"10.1515","author":[{"given":"Abhishek","family":"Kulkarni","sequence":"first","affiliation":[{"name":"Consultant & Head\u00a0\u2013\u00a0Paediatric & Adolescent Endocrinologist , Sir HN Reliance Foundation Hospital & Research Centre Mumbai, India and SRCC Children\u2019s Hospital , Mumbai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devika","family":"Desai","sequence":"additional","affiliation":[{"name":"Junior Consultant Paediatric & Adolescent Endocrinologist , SRCC Children\u2019s Hospital , Mumbai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joewin","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Clinical Associate Paediatric and Adolescent Endocrinologist , SRCC Children\u2019s Hospital , Mumbai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,8,20]]},"reference":[{"key":"2026092807553600890_j_jpem-2026-0029_ref_001","doi-asserted-by":"crossref","unstructured":"Khundmiri, SJ, Murray, RD, Lederer, E. 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Case report: inactivating PTH\/PTHrP signaling disorder type 1 presenting with PTH resistance. Front Endocrinol 2022;13:928284. https:\/\/doi.org\/10.3389\/fendo.2022.928284.","DOI":"10.3389\/fendo.2022.928284"},{"key":"2026092807553600890_j_jpem-2026-0029_ref_017","doi-asserted-by":"crossref","unstructured":"Portales-Castillo, I, J\u00fcppner, H, J\u00fcppner, H, Gardella, TJ. Human diseases caused by homozygous PTH1R mutations. Front Endocrinol 2025. https:\/\/doi.org\/10.3389\/fendo.2025.1641292.","DOI":"10.3389\/fendo.2025.1641292"},{"key":"2026092807553600890_j_jpem-2026-0029_ref_018","doi-asserted-by":"crossref","unstructured":"Decker, E, Stellzig-Eisenhauer, A, Fiebig, BS, Rau, C, Kress, W, Saar, K, et al.. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 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