ARTICLE TYPE : CASE REPORT
Published on : 15 Jun 2026,
Volume - 2
Journal Title :
WebLog Journal of Endocrinology and Diabetes
| WebLog J Endocrinol Diabetes
| WJED
Journal ISSN: 3071-3986
Source URL:
https://weblogoa.com/articles/wjed.2026.f1502
Permanent Identifier (DOI) :
A Rare Presentation of McCune–Albright Syndrome in a Nine‑Year‑Old Boy with Giant Craniofacial Polyostotic Fibrous Dysplasia, Café‑au‑Lait Macules, and Precocious Puberty
2Department of Pediatric Surgery, UMTH, Maiduguri, Nigeria and Visiting Consultant Surgeon, UK
3Lincoln Uni College, 2, Jalan Stadium, 47301 Petaling Jaya, Selangor, Malaysia
4Department of Pediatric Surgery, Sultan Qaboos Hospital, Salalah, Sultanate of Oman
5Department of Pediatric Surgery, Amadora-Sintra Hosp, Lisbon, Portugal
6J. Watumull Global Hospital & Research Centre, Delwara Road, Mount Abu, Rajasthan 307501, India, Affiliated to Medical Faculty of God Fatherly Spiritual University
7Department of Pediatric Surgery, PGICHR and KTCGUH, Rajkot 360001, Gujarat, India
Abstract
Background: McCune–Albright syndrome (MAS) is a rare mosaic disorder classically defined by the triad of polyostotic fibrous dysplasia, café au lait macules, and endocrine hyperfunction. The full triad is uncommon, and presentation in males is particularly rare.
Case: We report a nine-year-old boy presenting with progressive craniofacial deformity, multiple café au lait macules, and signs of precocious puberty. Imaging revealed extensive expansile polyostotic fibrous dysplasia involving the cranial vault and facial bones. Endocrine evaluation confirmed gonadotropin independent precocious puberty. Genetic testing identified an activating GNAS mutation consistent with MAS.
Conclusion: This case represents a rare, classical triad presentation of MAS in a male child, with unusually extensive craniofacial involvement. Early recognition and multidisciplinary management are essential to prevent functional compromise and optimise long term outcomes.
Keywords: McCune–Albright Syndrome (MAS); Polyostotic Fibrous Dysplasia (PFD); Craniofacial Fibrous Dysplasia; Precocious Puberty; Café-au-Lait Macules; GNAS Gene Mutation; Gαs Protein Activation; Pediatric Endocrinology; Rare Diseases
Citation
Khatri LK, Endeley EML, Swamy KB, Bhattacharya DC, Correia RC, Mehta AR, et al. A Rare Presentation of McCune–Albright Syndrome in a Nine-Year-Old Boy with Giant Craniofacial Polyostotic Fibrous Dysplasia, Café-au-Lait Macules, and Precocious Puberty. WebLog J Endocrinol Diabetes. wjed.2026.f1502. https://doi.org/10.5281/zenodo.20965691