# McCune-Albright Syndrome: A Case Series

## TL;DR

This case series describes three children with McCune-Albright Syndrome, a rare genetic disorder, highlighting their varied symptoms and the importance of early diagnosis.

## Contribution

The paper presents three distinct clinical cases of MAS with diverse manifestations, emphasizing the need for individualized management.

## Key findings

- Case 1 shows a boy with craniofacial fibrous dysplasia and recurrent fractures.
- Case 2 involves a girl with early menarche and gonadotropin-independent precocious puberty.
- Case 3 describes a girl transitioning from GIPP to gonadotropin-dependent precocious puberty.

## Abstract

McCune- Albright syndrome (MAS) is a rare disorder characterized by postzygotic somatic activation mutation of GNAS, 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.