{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T15:02:40Z","timestamp":1775142160325,"version":"3.50.1"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T00:00:00Z","timestamp":1745798400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009045","name":"Uniwersytet Jagiello\u0144ski Collegium Medicum","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009045","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>McCune\u2013Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating variants of the GNAS gene. Due to the mosaic state of the variants, the clinical presentation of MAS varies widely depending on the tissues involved. We present a case of a 40-year-old woman who was admitted to the Pulmonary Unit due to progressive pulmonary insufficiency secondary to severe scoliosis. Upon physical examination, hyperpigmented skin lesions on the neck, features of acromegaly, and scoliosis were noted. Radiographic imaging revealed osteolytic lesions of the axial skeleton, which were suspected to be metastases. Imaging via 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) did not confirm metastases and revealed a pituitary lesion. The laboratory workup confirmed acromegaly. Additionally, hypercalcemia, normophosphatemia, elevated parathyroid hormone level, and decreased urine calcium excretion were found. Further examinations revealed kidney stones, cholecystolithiasis, and severe osteoporosis. During follow-up visits, hypophosphatemia has been observed. Bone scintigraphy revealed increased tracer uptake in multiple skeletal system parts, corresponding to degenerative changes. Genetic testing using Sanger sequencing was negative for <jats:italic>MEN1<\/jats:italic> and <jats:italic>CDKN1B<\/jats:italic> mutations but revealed a common germline, heterozygous <jats:italic>GNAS<\/jats:italic> variant NM_000516.7:c.531-13_531-10del (rs576071932) \u2013 classified as a variant of uncertain significance (RCV000597562.1) with a minor allele frequency of 0.265%. Digital Droplet Polymerase Chain Reaction in the circulating cell-free DNA was negative for R201C and R201H GNAS mutation. This case emphasizes that acromegaly, skeletal deformity, hyperpigmented skin lesions, and hyperfunction of the thyroid and parathyroid glands may lead to suspicion of MAS. The diagnosis is often made clinically based on two or more characteristic symptoms. Genetic confirmation of MAS can be challenging.<\/jats:p>","DOI":"10.3389\/fendo.2025.1464945","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T04:11:45Z","timestamp":1745813505000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism"],"prefix":"10.3389","volume":"16","author":[{"given":"Anna","family":"Bogus\u0142awska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Komisarz-Calik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicja","family":"Hubalewska-Dydejczyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Korbonits","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pauline","family":"Romanet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Gilis-Januszewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,4,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-12","article-title":"McCune-Albright syndrome","volume":"3","author":"Dumitrescu","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"B2","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1186\/s13023-019-1255-6","article-title":"Best practice management guidelines for fibrous dysplasia\/McCune-Albright syndrome : a consensus statement from the FD\/MAS international consortium","volume":"14","author":"Javaid","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"B3","article-title":"Disseminata, areas of pigmentation and endocrine","volume":"216","author":"Albright","year":"1937","journal-title":"N Engl J Med"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112123252403","article-title":"Activating mutations of the stimulatory g protein in the mcCune\u2013albright syndrome","volume":"325","author":"Weinstein","year":"1991","journal-title":"N Engl J Med"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3826","article-title":"Acromegaly and McCune-Albright syndrome","volume":"99","author":"Salenave","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0060525","article-title":"Quantitative and sensitive detection of GNAS mutations causing McCune-Albright syndrome with next generation sequencing","volume":"8","author":"Narumi","year":"2013","journal-title":"PloS One"},{"key":"B7","article-title":"McCune-Albright syndrome: Molecular genetics","volume":"15","author":"Lumbroso","year":"2002","journal-title":"J Pediatr Endocrinol Metab"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00862","article-title":"Improved molecular diagnosis of McCune\u2013Albright syndrome and bone fibrous dysplasia by digital PCR","volume":"10","author":"Elli","year":"2019","journal-title":"Front Genet"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-200403000-00011","article-title":"Fibrous dysplasia in the spine: prevalence of lesions and association with scoliosis","volume":"86","author":"Leet","year":"2004","journal-title":"J Bone Jt Surg"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e04242","DOI":"10.1002\/ccr3.4242","article-title":"Scoliosis with peculiar radiological features in a patient with McCune-Albright syndrome","volume":"9","author":"Michev","year":"2021","journal-title":"Clin Case Reports"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00360.2010","article-title":"PTH increases FGF23 gene expression and mediates the high-FGF23 levels of experimental kidney failure: A bone parathyroid feedback loop","volume":"299","author":"Lavi-Moshayoff","year":"2010","journal-title":"Am J Physiol - Ren Physiol"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005111185","article-title":"Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D","volume":"17","author":"Liu","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-19-0969","article-title":"Diagnosis of endocrine disease: Mosaic disorders of FGF23 excess: Fibrous dysplasia\/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome","volume":"182","author":"De Castro","year":"2020","journal-title":"Eur J Endocrinol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"2037","DOI":"10.1016\/j.joms.2009.04.007","article-title":"Etiology of hyperparathyroidism in McCune-Albright syndrome","volume":"67","author":"Furlanetto","year":"2009","journal-title":"J  Maxillofac Surg"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2237","article-title":"The role of type 1 and type 2 5\u2032-deiodinase in the pathophysiology of the 3,5,3\u2032-triiodothyronine toxicosis of McCune-Albright syndrome","volume":"93","author":"Celi","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1111\/cen.13419","article-title":"Long-term health outcomes of adults with McCune- Albright syndrome","volume":"87","author":"Wong","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1968.03140350028006","article-title":"Melanotic macules in Albright\u2019s syndrome and in neurofibromatosis","volume":"205","author":"Benedict","year":"1968","journal-title":"JAMA J Am Med Assoc"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/jcm10071377","article-title":"Genetics of acromegaly and gigantism","volume":"10","author":"Bogus\u0142awska","year":"2021","journal-title":"J Clin Med"},{"key":"B19","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.jpeds.2018.09.070","article-title":"Using digital droplet polymerase chain reaction to detect the mosaic GNAS mutations in whole blood DNA or circulating cell-free DNA in fibrous dysplasia and McCune-Albright syndrome","volume":"205","author":"Romanet","year":"2019","journal-title":"J Pediatr"},{"key":"B20","first-page":"1","article-title":"Fibrous dysplasia\/McCune-Albright syndrome summary","volume":"1","author":"Boyce","year":"2019","journal-title":"GeneReviews"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2025.1464945\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T04:11:46Z","timestamp":1745813506000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2025.1464945\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,28]]},"references-count":20,"alternative-id":["10.3389\/fendo.2025.1464945"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2025.1464945","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,28]]},"article-number":"1464945"}}