{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:05:07Z","timestamp":1787058307492,"version":"build-2736575974"},"reference-count":72,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u2018Victor Babes\u2019 University of Medicine and Pharmacy, Timisoara"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among the potential causes of chronic hypocalcemia, primary hypoparathyroidism stands out. The case of a seven-year-old male patient with hypocalcemia reported in this article serves as an illustration, wherein targeted next-generation sequencing revealed a homozygous p.R257X mutation in the AIRE gene, indicative of autoimmune polyendocrine syndrome type 1 (APS-1). It poses challenges due to its multisystemic nature and involvement of specific autoantibodies, often leading to underdiagnosis, owing to its rarity, varied manifestations, and incomplete penetrance. A comprehensive review of the APS-1 literature was conducted to provide insights into the clinical manifestations, genetic spectrum, potential immunological mechanisms, and current medical strategies. Additionally, the recognition of AIRE gene mutations is crucial for facilitating genetic diagnosis, prognosis, and potential treatment strategies for APS-1. The management of such cases involves individualized approaches to treatment, regular monitoring, medication adjustments, and the early identification of associated conditions.<\/jats:p>","DOI":"10.3390\/jcm13082368","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T10:30:52Z","timestamp":1713436252000},"page":"2368","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1\u2014A Case Study and Literature Review"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7992-4059","authenticated-orcid":false,"given":"Giorgiana-Flavia","family":"Brad","sequence":"first","affiliation":[{"name":"Department XI Pediatrics, Discipline I Pediatrics, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"},{"name":"1st Department of Pediatrics, Children\u2019s Emergency Hospital \u2018Louis Turcanu\u2019, 300011 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6064-2282","authenticated-orcid":false,"given":"Delia-Maria","family":"Nicoar\u0103","sequence":"additional","affiliation":[{"name":"Department XI Pediatrics, Discipline I Pediatrics, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra-Cristina","family":"Scutca","sequence":"additional","affiliation":[{"name":"Department XI Pediatrics, Discipline I Pediatrics, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"},{"name":"1st Department of Pediatrics, Children\u2019s Emergency Hospital \u2018Louis Turcanu\u2019, 300011 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meda-Ada","family":"Bugi","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics, Children\u2019s Emergency Hospital \u2018Louis Turcanu\u2019, 300011 Timisoara, Romania"},{"name":"Research Center for Disturbances of Growth and Development in Children BELIVE, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raluca","family":"Asproniu","sequence":"additional","affiliation":[{"name":"Department XI Pediatrics, Discipline I Pediatrics, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"},{"name":"1st Department of Pediatrics, Children\u2019s Emergency Hospital \u2018Louis Turcanu\u2019, 300011 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura-Gratiela","family":"Olariu","sequence":"additional","affiliation":[{"name":"Department XI Pediatrics, Discipline I Pediatrics, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"},{"name":"1st Department of Pediatrics, Children\u2019s Emergency Hospital \u2018Louis Turcanu\u2019, 300011 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iulius","family":"Jug\u0103naru","sequence":"additional","affiliation":[{"name":"Department XI Pediatrics, Discipline I Pediatrics, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"},{"name":"1st Department of Pediatrics, Children\u2019s Emergency Hospital \u2018Louis Turcanu\u2019, 300011 Timisoara, Romania"},{"name":"Research Center for Disturbances of Growth and Development in Children BELIVE, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucian-Ioan","family":"Cristun","sequence":"additional","affiliation":[{"name":"Ph.D. School Department, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2313-7643","authenticated-orcid":false,"given":"Otilia","family":"M\u0103rginean","sequence":"additional","affiliation":[{"name":"Department XI Pediatrics, Discipline I Pediatrics, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania"},{"name":"1st Department of Pediatrics, Children\u2019s Emergency Hospital \u2018Louis Turcanu\u2019, 300011 Timisoara, Romania"},{"name":"Research Center for Disturbances of Growth and Development in Children BELIVE, \u2018Victor Babes\u2019 University of Medicine and Pharmacy of Timisoara, 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