Abstract
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder resulting from a postzygotic activating mutation of the GNAS gene, leading to mosaic activation of the Gs protein. FD/MAS encompasses skeletal and extraskeletal manifestations, including GH excess. Medical management of GH excess in FD/MAS can be complex, especially during pregnancy, due to limited safety data on pharmacotherapy. We describe a 31-year-old female with FD/MAS who continued pegvisomant for a GH and prolactin cosecreting pituitary adenoma during her pregnancy to minimize the risk of GH-induced craniofacial fibrous dysplasia progression and consequent visual loss. She had an uncomplicated pregnancy with delivery of a healthy baby girl at term. This case demonstrates safe and efficacious use of pegvisomant in managing GH excess during pregnancy and is the first report in an individual with FD/MAS, underscoring its potential role in similar cases.
| Original language | English |
|---|---|
| Article number | luaf095 |
| Number of pages | 6 |
| Journal | JCEM Case Reports |
| Volume | 3 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2025 |
| Externally published | Yes |
Keywords
- acromegaly
- McCune-Albright syndrome
- pegvisomant
- pregnancy