{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T03:05:05Z","timestamp":1793329505876,"version":"4.5.0"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0357_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0357_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report the case of a 13-year-old male child who presented with a <jats:italic>caf\u00e9-au-lait<\/jats:italic> macule in the lumbosacral region and disabling polyostotic FD, requiring several surgical interventions and bisphosphonates from the age of 3\u00a0years (Y)\u00a0+\u00a09\u00a0months (M)\u00a0due to persistent and severe pain. Hyperthyroidism (HT) became apparent at 5\u00a0Y\u00a0+\u00a01\u00a0M with a T3\/T4 ratio greater than 20. Treatment with anti-thyroid drugs (ATD) was carried out for 7\u00a0Y and there was a progressive improvement in pain complaints 8\u00a0M after starting ATD, allowing treatment with pamidronate to be discontinued. Total thyroidectomy was performed at 12\u00a0Y\u00a0+\u00a05\u00a0M.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0357_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This is a case of MAS-associated HT that reflects the deleterious effect of thyroid hormone excess on FD, reinforcing the need of having a low threshold for suspicion of HFE that may arise.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0357","type":"journal-article","created":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T20:46:17Z","timestamp":1668026777000},"page":"319-322","source":"Crossref","is-referenced-by-count":4,"title":["Hyperthyroidism in McCune\u2013Albright Syndrome\u00a0\u2013\u00a0a case report"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6169-7521","authenticated-orcid":false,"given":"Patr\u00edcia","family":"Rosinha","sequence":"first","affiliation":[{"name":"Department of Endocrinology , Centro Hospitalar Baixo Vouga , Aveiro , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diogo","family":"Ramalho","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Centro Hospitalar Vila Nova de Gaia\/Espinho , Gaia , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlando","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Hospital Pedi\u00e1trico , Centro Hospitalar e Universit\u00e1rio de Coimbra , Coimbra , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9rgio","family":"Sousa","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Hospital Pedi\u00e1trico , Centro Hospitalar e Universit\u00e1rio de Coimbra , Coimbra , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Alves","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, Hospital Pedi\u00e1trico , Centro Hospitalar e Universit\u00e1rio de Coimbra , Coimbra , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Lopes","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , Centro Hospitalar e Universit\u00e1rio de Coimbra , Coimbra , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana Serra","family":"Caetano","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics , Centro Hospitalar e Universit\u00e1rio de Coimbra , Coimbra , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Mirante","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics , Centro Hospitalar e Universit\u00e1rio de Coimbra , Coimbra , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,11,10]]},"reference":[{"key":"2023033123251294861_j_jpem-2022-0357_ref_001","doi-asserted-by":"crossref","unstructured":"Javaid, MK, Boyce, A, Appelman-Dijkstra, N, Ong, J, Defabianis, P, Offiah, A, et al.. Best practice management guidelines for fibrous dysplasia\/McCune-Albright Syndrome: a consensus statement from the FD\/MAS international consortium. Orphanet J Rare Dis 2019;14. https:\/\/doi.org\/10.1186\/s13023-019-1102-9.","DOI":"10.1186\/s13023-019-1102-9"},{"key":"2023033123251294861_j_jpem-2022-0357_ref_002","doi-asserted-by":"crossref","unstructured":"Tessaris, D, Corrias, A, Matarazzo, P, De Sanctis, L, Wasniewska, M, Messina, MF, et al.. Thyroid abnormalities in children and adolescents with McCune-Albright Syndrome. Horm Res Paediatr 2012;78:151\u20137. https:\/\/doi.org\/10.1159\/000342641.","DOI":"10.1159\/000342641"},{"key":"2023033123251294861_j_jpem-2022-0357_ref_003","doi-asserted-by":"crossref","unstructured":"Hartley, I, Zhadina, M, Collins, MT, Boyce, AM. Fibrous dysplasia of bone and McCune-Albright Syndrome: a bench to bedside review. Calcif Tissue Int 2019;104:517\u201329. https:\/\/doi.org\/10.1007\/s00223-019-00550-z.","DOI":"10.1007\/s00223-019-00550-z"},{"key":"2023033123251294861_j_jpem-2022-0357_ref_004","doi-asserted-by":"crossref","unstructured":"Spencer, T, Pan, KS, Collins, MT, Boyce, AM. The clinical spectrum of McCune-albright Syndrome and its management. Horm Res Paediatr 2019;92:347\u201356. https:\/\/doi.org\/10.1159\/000504802.","DOI":"10.1159\/000504802"},{"key":"2023033123251294861_j_jpem-2022-0357_ref_005","doi-asserted-by":"crossref","unstructured":"Collins, MT, Singer, FR, Eugster, E. McCune-Albright Syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis 2012;7(1: S4). https:\/\/doi.org\/10.1186\/1750-1172-7-S1-S4.","DOI":"10.1186\/1750-1172-7-S1-S4"},{"key":"2023033123251294861_j_jpem-2022-0357_ref_006","doi-asserted-by":"crossref","unstructured":"Merchant, N, Viau-Colindres, JM, Hicks, KA, Balazs, AE, Wesson, DE, Lopez, ME, et al.. McCune-albright Syndrome with unremitting hyperthyroidism at early age: management perspective for early thyroidectomy. Glob Pediatr Health 2019;6:1\u20135. https:\/\/doi.org\/10.1177\/2333794X19875153.","DOI":"10.1177\/2333794X19875153"},{"key":"2023033123251294861_j_jpem-2022-0357_ref_007","doi-asserted-by":"crossref","unstructured":"Sallum, ACR, Leonhardt, FD, Cervantes, O, Abrah\u00e3o, M, Yazaki, RK. Hipertireoidismo relacionado \u00e0 s\u00edndrome de McCune Albright: relato de dois casos e revis\u00e3o da literatura. Arquivos Brasileiros Endocrinol Metabol 2008;52:556\u201361. https:\/\/doi.org\/10.1590\/s0004-27302008000300017.","DOI":"10.1590\/S0004-27302008000300017"},{"key":"2023033123251294861_j_jpem-2022-0357_ref_008","doi-asserted-by":"crossref","unstructured":"Geels, RES, Meier, ME, Saikali, A, Tsonaka, R, Appelman-Dijkstra, NM, Boyce, AM. Long bone fractures in fibrous dysplasia\/McCune-albright Syndrome: prevalence, natural history, and risk factors. J Bone Miner Res 2022;37:236\u201343. https:\/\/doi.org\/10.1002\/jbmr.4463.","DOI":"10.1002\/jbmr.4463"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0357\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0357\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T12:25:30Z","timestamp":1680351930000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0357\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,10]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,1,6]]},"published-print":{"date-parts":[[2023,3,28]]}},"alternative-id":["10.1515\/jpem-2022-0357"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0357","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,10]]}}}