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. 2019 Apr 29;14(1):90.
doi: 10.1186/s13023-019-1057-x.

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

Alison M Boyce  1 , Rachel K Casey  2   3 , Diana Ovejero Crespo  4   5   6 , Cynthia M Murdock  7   8 , Andrea Estrada  4   9 , Lori C Guthrie  4 , Beth A Brillante  4 , Veronica Gomez-Lobo  2 , Lynette K Nieman  7 , Michael T Collins  4
Affiliations

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

Alison M Boyce et al. Orphanet J Rare Dis. .

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.

Keywords: Abnormal uterine bleeding; Estrogen; Fertility; Gynecology; Ovarian cyst.

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Conflict of interest statement

Ethics approval and consent to participate

The protocol was approved by the NIDCR institutional review board, and was conducted in accordance with the Declaration of Helsinki and Good Clinical Practice. A written informed consent/assent was obtained from all subjects and/or their guardians to participate in the protocol.

Consent for publication

A written informed consent/assent was obtained from all subjects and/or their guardians to publish clinical data.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Representative pelvic ultrasound images. a Solitary cyst, measuring 4 cm in diameter. b Septated ovarian cyst, measuring 4 cm in diameter. c Multicystic adnexal mass, measuring 6 cm in diameter. d Multiple cysts involving the right ovary, the largest measuring 3 cm in diameter
See this image and copyright information in PMC

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