Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome

Orphanet Journal of Rare Diseases

Veronica Gomez-Lobo¹  Rachel K. Casey¹  Lynette K. Nieman²  Cynthia M. Murdock²  Andrea Estrada³  Michael T. Collins³  Lori C. Guthrie³  Alison M. Boyce³  Diana Ovejero Crespo³  Beth A. Brillante³ 

[1] Division of Pediatric and Adolescent Gynecology, Department of Obstetrics and Gynecology, MedStar Washington Hospital Center, Children’s National Health System;Program in Reproductive and Adult Endocrinology, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health;Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health;

关键词: Ovarian cyst;    Abnormal uterine bleeding;    Gynecology;    Fertility;    Estrogen;   

DOI  :  10.1186/s13023-019-1057-x

来源: DOAJ

【 摘 要 】

Abstract Background Autonomous 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. Methods Thirty-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. Results Abnormal 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. Conclusions Women 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.

【 授权许可】

Unknown