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Author Notes:

Address correspondence to: Heather S. Hipp, MD, Division of Reproductive Endocrinology and Infertility, Emory University School of Medicine, 550 Peachtree Street, Suite 1800, Atlanta, GA 30308. E-mail: hhipp@emory.edu

The authors thank Weiya He and Ashima Amin for their laboratory work assistance.

We are also very thankful to the women included in this study for their time and willingness to speak with us.

Conflicts of Interest/ Financial Disclosures: None

Subjects:

Research Funding:

Financial Support: Supported, in part, from an award (NS091859) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Institute of Neurological Disorders and Stroke (NINDS)

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Obstetrics & Gynecology
  • FMR1
  • FXPOI
  • Hormone therapy
  • Infertility
  • Primary ovarian insufficiency
  • FMR1 PREMUTATION CARRIERS
  • CGG REPEAT NUMBER
  • ANTI-MULLERIAN HORMONE
  • BONE-MINERAL DENSITY
  • EARLY MENOPAUSE
  • YOUNG-WOMEN
  • PRENATAL-DIAGNOSIS
  • NATURAL MENOPAUSE
  • CONTROLLED-TRIAL
  • FAILURE

Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)

Tools:

Journal Title:

Menopause

Volume:

Volume 23, Number 9

Publisher:

, Pages 993-999

Type of Work:

Article | Post-print: After Peer Review

Abstract:

Objective: Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI). Methods: Semistructured interviews with 79 women with FXPOI were conducted by a single interviewer. FMR1 cytosine-guanine-guanine repeat size was determined from a blood, saliva, or buccal sample. Results: The median age of POI onset for women in our study was 33 years. Seventy-two percent of the women had an FMR1 cytosine-guanine-guanine repeat length of 80 to 100. Mean length of time from symptom onset to POI diagnosis was 1.12 years, longer in women with a younger age of POI onset and shorter in women who knew they were carriers. After diagnosis, 52% of women never took hormone therapy, started it years after POI diagnosis, or stopped it before 45 years of age. Forty-nine percent of the women had infertility, but 75% had had at least one genetically related child. Obstetric outcomes were similar to the general population. Forty-six percent of women had a diagnosis of low bone mineral density or osteoporosis, and an additional 19% had never had a bone density assessment. Conclusions: Women with FXPOI are at significant risk for delayed POI diagnosis and undertreatment with hormone therapy. Although approximately 50% of women had infertility, most were able to conceive at least one child and had no elevated risk of adverse obstetric outcomes.

Copyright information:

© 2016 by The North American Menopause Society. Unauthorized reproduction of this article is prohibited.

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