Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center
IntroductionMcCune-Albright syndrome (MAS) is a rare disease caused by somatic gain-of-function variants in the GNAS gene that lead to constitutive activation of the G protein alpha subunit (Gsα). Pathologic consequences can involve several tissues. Fibrous dysplasia (FD), café-au-lait skin macules...
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Frontiers Media S.A.
2025-02-01
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| author | Solène Bergignat Roland Chapurlat Roland Chapurlat Roland Chapurlat Marc Nicolino Marc Nicolino Kevin Perge Kevin Perge |
| author_facet | Solène Bergignat Roland Chapurlat Roland Chapurlat Roland Chapurlat Marc Nicolino Marc Nicolino Kevin Perge Kevin Perge |
| author_sort | Solène Bergignat |
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| description | IntroductionMcCune-Albright syndrome (MAS) is a rare disease caused by somatic gain-of-function variants in the GNAS gene that lead to constitutive activation of the G protein alpha subunit (Gsα). Pathologic consequences can involve several tissues. Fibrous dysplasia (FD), café-au-lait skin macules and hyperfunctioning endocrinopathies are classic manifestations. However, the phenotypic spectrum of MAS is considerably wider and more complex.MethodsWe performed a pediatric retrospective study from our National Referral Center between 2007 and 2021 to describe the clinical spectrum of MAS in children, with a focus on unusual or severe manifestations.Results and discussionA total of 33 children were included. Peripheral precocious puberty was the most frequent endocrinopathy, affecting 84,6% of girls and was the presenting feature for 57,6% of them. Thyroid involvement was also common, consisting in morphological abnormalities with or without slight hyperthyroidism. Thyroid nodules were typically benign, but one patient presented a follicular thyroid carcinoma. Cushing syndrome typically occurs in the neonatal period, but we observed an unusual case of hypercortisolism revealed in early infancy. FD was very common and manifested along a wide range of severity, from monostotic and asymptomatic lesion to polyostotic FD with pain, fractures, and compressive optic neuropathy. We described a locally aggressive FD involving sphenoid and maxillary bones which leaded a young female patient to death. Finally, we reported hepatic disorders, including a case of hepatocellular adenoma. In conclusion, MAS is a multisystemic disorder, with a variable combination of symptoms, and a broad range of severity. These uncommon abnormalities mostly occurred in patients with significant involvement of multiple other tissues. |
| format | Article |
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| issn | 1664-2392 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Endocrinology |
| spelling | doaj-art-63391d0ff54448efa90410f459d1065e2025-08-20T02:04:09ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-02-011610.3389/fendo.2025.15317651531765Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral CenterSolène Bergignat0Roland Chapurlat1Roland Chapurlat2Roland Chapurlat3Marc Nicolino4Marc Nicolino5Kevin Perge6Kevin Perge7Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Bron, FranceFaculté de Médecine Lyon-Est, Université Claude Bernard, Lyon, Lyon, FranceHospices Civils de Lyon, Hôpital Edouard-Herriot, Service de rhumatologie, Lyon, FranceCentre National de Référence de la Dysplasie Fibreuse des Os, Hôpital E Herriot, Lyon, FranceHospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Bron, FranceFaculté de Médecine Lyon-Est, Université Claude Bernard, Lyon, Lyon, FranceHospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Bron, FranceFaculté de Médecine Lyon-Est, Université Claude Bernard, Lyon, Lyon, FranceIntroductionMcCune-Albright syndrome (MAS) is a rare disease caused by somatic gain-of-function variants in the GNAS gene that lead to constitutive activation of the G protein alpha subunit (Gsα). Pathologic consequences can involve several tissues. Fibrous dysplasia (FD), café-au-lait skin macules and hyperfunctioning endocrinopathies are classic manifestations. However, the phenotypic spectrum of MAS is considerably wider and more complex.MethodsWe performed a pediatric retrospective study from our National Referral Center between 2007 and 2021 to describe the clinical spectrum of MAS in children, with a focus on unusual or severe manifestations.Results and discussionA total of 33 children were included. Peripheral precocious puberty was the most frequent endocrinopathy, affecting 84,6% of girls and was the presenting feature for 57,6% of them. Thyroid involvement was also common, consisting in morphological abnormalities with or without slight hyperthyroidism. Thyroid nodules were typically benign, but one patient presented a follicular thyroid carcinoma. Cushing syndrome typically occurs in the neonatal period, but we observed an unusual case of hypercortisolism revealed in early infancy. FD was very common and manifested along a wide range of severity, from monostotic and asymptomatic lesion to polyostotic FD with pain, fractures, and compressive optic neuropathy. We described a locally aggressive FD involving sphenoid and maxillary bones which leaded a young female patient to death. Finally, we reported hepatic disorders, including a case of hepatocellular adenoma. In conclusion, MAS is a multisystemic disorder, with a variable combination of symptoms, and a broad range of severity. These uncommon abnormalities mostly occurred in patients with significant involvement of multiple other tissues.https://www.frontiersin.org/articles/10.3389/fendo.2025.1531765/fullMcCune-Albright syndromeGNASprecocious pubertyacromegalythyroid carcinomaCushing syndrome |
| spellingShingle | Solène Bergignat Roland Chapurlat Roland Chapurlat Roland Chapurlat Marc Nicolino Marc Nicolino Kevin Perge Kevin Perge Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center Frontiers in Endocrinology McCune-Albright syndrome GNAS precocious puberty acromegaly thyroid carcinoma Cushing syndrome |
| title | Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center |
| title_full | Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center |
| title_fullStr | Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center |
| title_full_unstemmed | Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center |
| title_short | Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center |
| title_sort | clinical spectrum and uncommon features of mccune albright syndrome in children a cohort study from a national referral center |
| topic | McCune-Albright syndrome GNAS precocious puberty acromegaly thyroid carcinoma Cushing syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1531765/full |
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