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.

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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
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0.00
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article

McCune-Albright Syndrome: A Case Series

Dayanidhi Meher, Amogh S. Chappalagavi, Vishal Agarwal, Sambit Das et al.
Cureus
Bone Tumor Diagnosis and Treatments
article

McCune-Albright Syndrome: A Case Series

Dayanidhi Meher, Amogh S. Chappalagavi, Vishal Agarwal, Sambit Das, Devadarshini Sahoo
article en

Abstract

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.

CureusVol. 18(1)
All India Institute of Medical Sciences Bhubaneswar (IN)
Openalex Percentile: Top 94%
Bone Tumor Diagnosis and Treatments
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