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

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

Author information

1
Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 218 MSC 4320, Bethesda, MD, USA. boyceam@mail.nih.gov.
2
Division of Pediatric and Adolescent Gynecology, Department of Obstetrics and Gynecology, MedStar Washington Hospital Center, Children's National Health System, Washington, D.C., USA.
3
Pediatric and Adolescent Gynecology, Inova Health System, Pediatric Specialists of Virginia, Fairfax, VA, USA.
4
Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 218 MSC 4320, Bethesda, MD, USA.
5
Musculoskeletal Research Unit, Hospital del Mar Institute of Medical Investigation (IMIM), Barcelona, Spain.
6
National Research Council, Institute of Clinical Physiology, Lecce, Italy.
7
Program in Reproductive and Adult Endocrinology, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
8
Reproductive Medicine Associates of Connecticut, Norwalk, CT, USA.
9
Division of Endocrinology & Diabetes, Children's National Health System, 111 Michigan Ave NW, Washington, D.C, USA.

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

PMID:
31036049
PMCID:
PMC6489337
DOI:
10.1186/s13023-019-1057-x
[Indexed for MEDLINE]
Free PMC Article

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