{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T09:24:19Z","timestamp":1789032259566,"version":"build-2803163510"},"reference-count":9,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,8,30]]},"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:p>Hypocalcaemia is a frequently encountered electrolyte abnormality in neonates and it is mostly transient. However, persistent hypocalcaemia can point towards an endocrine abnormality like hypoparathyroidism, which is usually due to genetic disorders like DiGeorge and Kearns Sayre syndrome or due to mutations of genes like GCM2, CaSR and PTH.<\/jats:p>\n               <jats:p>Our patient was a female child, who presented with hypocalcaemic convulsions in the neonatal period. On laboratory assessment, serum phosphate levels were noted to be high along with inappropriately low parathyroid hormone (PTH) levels. The child was diagnosed to have hypoparathyroidism and was started on oral calcium and 1,25-dihydroxycholecalciferol supplements to which she responded well. However, the child was lost to follow-up and was readmitted with hypocalcaemic convulsions in infancy. Clinical exome analysis done was diagnostic of homozygous PTH gene mutation. This case demonstrates a rare form of congenital isolated hypoparathyroidism with no other syndromic associations.<\/jats:p>","DOI":"10.1136\/bcr-2023-256358","type":"journal-article","created":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T20:36:26Z","timestamp":1694550986000},"page":"e256358","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation"],"prefix":"10.1136","volume":"16","author":[{"given":"Savita","family":"Khadse","sequence":"first","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7784-5245","authenticated-orcid":false,"given":"Vrushali Satish","family":"Takalikar","sequence":"additional","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radha","family":"Ghildiyal","sequence":"additional","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Shah","sequence":"additional","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"},{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Surya Children's Hospital, Chembur, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,9,12]]},"reference":[{"key":"2025082803510809000_16.9.e256358.1","unstructured":"Eichenwald EC , Hansen AR , Martin CR , et al . Cloherty and Stark\u2019s Manual of Neonatal Care, South Asian edition. New Delhi: Wolters Kluwer, 2021: 338\u20139."},{"key":"2025082803510809000_16.9.e256358.2","unstructured":"Kliegman RM , Joseph WS , Nathan JB , et al . Nelson Textbook of Paediatrics, 21st ed. Philadelphia: Elsevier, 2020: 2945\u20138."},{"key":"2025082803510809000_16.9.e256358.3","first-page":"359","article-title":"Transient neonatal hypoparathyroidism: report of four cases","volume":"42","author":"Tseng","year":"2001","journal-title":"Acta Paediatr Taiwan"},{"key":"2025082803510809000_16.9.e256358.4","doi-asserted-by":"crossref","unstructured":"Dattani Mehul T , Brook CGD . Brook\u2019s Clinical Paediatric Endocrinology, 7th ed. Hoboken: Wiley-Blackwell, 2020: 430\u20131.","DOI":"10.1002\/9781119152712"},{"key":"2025082803510809000_16.9.e256358.5","doi-asserted-by":"crossref","first-page":"e2449","DOI":"10.1210\/clinem\/dgac086","article-title":"Novel PTH gene mutations causing isolated hypoparathyroidism","volume":"107","author":"Hawkes","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082803510809000_16.9.e256358.6","doi-asserted-by":"crossref","first-page":"3961","DOI":"10.1210\/jc.2017-00250","article-title":"Autosomal dominant PTH gene signal sequence mutation in a family with familial isolated hypoparathyroidism","volume":"102","author":"Cinque","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082803510809000_16.9.e256358.7","first-page":"472","article-title":"Hypoparathyroidism in children: a study of eight cases","volume":"96","author":"Maaloul","year":"2018","journal-title":"Tunis Med"},{"key":"2025082803510809000_16.9.e256358.8","first-page":"917","article-title":"Clinical and genetic characteristics of primary hypoparathyroidism in children","volume":"58","author":"Song","year":"2020","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"2025082803510809000_16.9.e256358.9","doi-asserted-by":"crossref","first-page":"64","DOI":"10.3803\/EnM.2020.35.1.64","article-title":"Rare PTH gene mutations causing parathyroid disorders: a review","volume":"35","author":"Lee","year":"2020","journal-title":"Endocrinol Metab (Seoul)"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-256358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:51:16Z","timestamp":1756378276000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-256358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":9,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,9,12]]},"published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1136\/bcr-2023-256358"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-256358","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9]]}}}