Abstract
BackgroundAutonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with McCune-Albright syndrome has been well-described, however long-term effects on gynecologic and reproductive function are unknown. Concerningly, case reports have described poor skeletal outcomes associated with pregnancy in women with fibrous dysplasia.MethodsThirty-nine women with fibrous dysplasia/McCune-Albright syndrome were evaluated as part of a natural history study. Clinical, radiographic, and biochemical data were reviewed. Women were contacted to obtain detailed menstrual and reproductive histories.ResultsAbnormal uterine bleeding affected 77% of women (30/39), and was associated with severe anemia requiring blood transfusion in 3 cases. Nine women underwent hysterectomy for management of bleeding, including 67% (6/9) at the unusually young age of less than age 35 years. Infertility affected 43% of women (9/21), including 2 women who developed primary ovarian insufficiency after undergoing surgical treatment of ovarian cysts. Of 25 spontaneous pregnancies in 14 women, 35% (8) were unplanned. Among the 14 pregnancies, pregnancy was associated with no change in bone pain in 7 subjects (53%), increased bone pain in 4 subjects (31%), and decreased bone pain in 2 subjects (15%). No additional skeletal complications were reported during pregnancies.ConclusionsWomen with fibrous dysplasia/McCune-Albright syndrome report a high prevalence of gynecologic morbidity and reduced fertility. There is no clear association between pregnancy and poor skeletal outcomes in this population.
Highlights
McCune-Albright syndrome (MAS)(ORPHA:562) is a rare disorder arising from somatic gain-of-function mutations in Gαs [1]
Disease presents along a broad spectrum that includes a variable combination of fibrous dysplasia of bone (FD), hyperpigmented skin macules, and hyperfunctioning endocrinopathies [2]
Abnormal uterine bleeding Chronic abnormal uterine bleeding was defined as vaginal bleeding that is abnormal in regularity, volume, frequency, or duration, and has been present for the majority of at least 6 months [12, 13]
Summary
McCune-Albright syndrome (MAS)(ORPHA:562) is a rare disorder arising from somatic gain-of-function mutations in Gαs [1]. The obstetrical literature in FD/MAS is limited to case reports of skeletal complications during pregnancy, including increased FD-related bone pain [6, 7], aneurysmal bone cysts [6, 8, 9], and malignant transformation of FD lesions [10]. This has led some to speculate that pregnancy increases FD activity, placing women at risk for poor skeletal outcomes [6, 7, 11]. Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Case reports have described poor skeletal outcomes associated with pregnancy in women with fibrous dysplasia
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