Safe Continuation of Pegvisomant During Pregnancy in a Patient With Fibrous Dysplasia/McCune-Albright Syndrome

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder resulting from a postzygotic activating mutation of the <i>GNAS</i> gene, leading to mosaic activation of the G<sub>s</sub> 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.

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Publication Details

Journal
JCEM Case Reports
Published
2025-04-18
DOI
https://doi.org/10.1210/jcemcr/luaf095
Primary Topic
Bone Tumor Diagnosis and Treatments
Type
article
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article

Safe Continuation of Pegvisomant During Pregnancy in a Patient With Fibrous Dysplasia/McCune-Albright Syndrome

Morton G. Burt, Julie Chemmanam, Jia Yong Tan, Nguyễn Thị Thanh Huyền et al.
JCEM Case Reports
Bone Tumor Diagnosis and Treatments
article

Safe Continuation of Pegvisomant During Pregnancy in a Patient With Fibrous Dysplasia/McCune-Albright Syndrome

Morton G. Burt, Julie Chemmanam, Jia Yong Tan, Nguyễn Thị Thanh Huyền, Jui T. Ho
article en

Abstract

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder resulting from a postzygotic activating mutation of the <i>GNAS</i> gene, leading to mosaic activation of the G<sub>s</sub> 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.

JCEM Case ReportsVol. 3(6)
Women's and Children's Hospital (AU), Flinders Medical Centre (AU)
Good health and well-being
Openalex Percentile: Top 84%
Bone Tumor Diagnosis and Treatments
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Safe Continuation of Pegvisomant During Pregnancy in a Patient With Fibrous Dysplasia/McCune-Albright Syndrome — Morton G. Burt, Julie Chemmanam, et al. · JCEM Case Reports (2025) | TGRS Research Map | TGRS