Bayar A Qasim, Rende S A Kochary, Halder J Abozait, Omed O Ismail
{"title":"A rare case of McCune-Albright syndrome in a young male with hyperthyroidism and hypertrophic scars.","authors":"Bayar A Qasim, Rende S A Kochary, Halder J Abozait, Omed O Ismail","doi":"10.1093/omcr/omaf158","DOIUrl":null,"url":null,"abstract":"<p><p>McCune-Albright syndrome (MAS) is somatic mosaicism disorder due to mutations in GNAS gene leading to a combination of fibrous dysplasia of bone, café-au-lait skin lesion and hyperfunctioning endocrinopathies. We report an 11-year-old boy who presented with bone pains and easy fractures with minor traumas that were treated with surgeries. He had multiple café-au-lait lesions, hypertrophic scars of prior surgeries and deformities of bones on examination and primary hyperthyroidism on investigation. His condition was initially misdiagnosed as osteogenesis imperfecta but the finding of hyperthyroidism reaffirms the diagnosis of MAS. He was treated with pamidronate, carbimazole and surgical operations to correct bony deformities.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf158"},"PeriodicalIF":0.4000,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448483/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oxford Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/omcr/omaf158","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/9/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
McCune-Albright syndrome (MAS) is somatic mosaicism disorder due to mutations in GNAS gene leading to a combination of fibrous dysplasia of bone, café-au-lait skin lesion and hyperfunctioning endocrinopathies. We report an 11-year-old boy who presented with bone pains and easy fractures with minor traumas that were treated with surgeries. He had multiple café-au-lait lesions, hypertrophic scars of prior surgeries and deformities of bones on examination and primary hyperthyroidism on investigation. His condition was initially misdiagnosed as osteogenesis imperfecta but the finding of hyperthyroidism reaffirms the diagnosis of MAS. He was treated with pamidronate, carbimazole and surgical operations to correct bony deformities.
期刊介绍：
Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
