Tan Jia Yong, Chemmanam Julie, Burt Morton G, Nguyen Huyen Thi Thanh, Ho Jui Ting
Southern Adelaide Diabetes and Endocrine Services, Flinders Medical Centre, Bedford Park, South Australia 5042, Australia.
Women's and Babies Division, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
JCEM Case Rep. 2025 May 13;3(6):luaf095. doi: 10.1210/jcemcr/luaf095. eCollection 2025 Jun.
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder resulting from a postzygotic activating mutation of the gene, leading to mosaic activation of the G 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.
纤维性发育不良/ McCune - Albright综合征（FD/MAS）是一种罕见的遗传性疾病，由基因的合子后激活突变引起，导致G蛋白的镶嵌激活。FD/MAS包括骨骼和骨骼外表现，包括生长激素过多。由于药物治疗的安全性数据有限，FD/MAS中生长激素过多的药物管理可能很复杂，尤其是在怀孕期间。我们描述了一名31岁患有FD/MAS的女性，她在怀孕期间继续使用培维索孟治疗生长激素和催乳素共同分泌的垂体腺瘤，以尽量降低生长激素诱导的颅面纤维性发育不良进展及随之而来的视力丧失的风险。她怀孕过程顺利，足月分娩出一名健康女婴。该病例证明了培维索孟在孕期管理生长激素过多方面的安全有效应用，这是FD/MAS个体中的首例报告，突出了其在类似病例中的潜在作用。
