McCune-Albright Syndrome: A Case Series
McCune- Albright syndrome (MAS) is a rare disorder characterized by postzygotic somatic activation mutation of <i>GNAS, </i>leading to constitutively active Gsα and ligand-independent signaling of the Gs-coupled protein receptor. Polyostotic fibrous dysplasia, café-au-lait macules, and endocrine hyperfunction, commonly gonadotropin-independent precocious puberty (GIPP), are the three clinical hallmarks of this condition. Mosaicism results in a wide range of clinical presentations. In this case series, we present three cases of MAS with varied presentations. Case 1 describes a 9-year-old boy with recurrent fractures and craniofacial fibrous dysplasia. Case 2 is an 8-year-old girl with early menarche and GIPP. Case 3 details a 7-year-old girl with unilateral early breast development progressing from GIPP to gonadotropin-dependent precocious puberty (GDPP). As it is a heterogeneous disorder, it requires individualized management. Prompt recognition of clinical features can aid early diagnosis and intervention to mitigate disease progression.
Authors
- Dayanidhi Meher (ORCID: https://orcid.org/0000-0001-8039-5142)
- Amogh S. Chappalagavi
- Vishal Agarwal
- Sambit Das
- Devadarshini Sahoo
Institutions
- All India Institute of Medical Sciences Bhubaneswar (IN)
Publication Details
- Journal
- Cureus
- Published
- 2026-01-08
- DOI
- https://doi.org/10.7759/cureus.101120
- Primary Topic
- Bone Tumor Diagnosis and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00