Abstract: SAT 004

Evaluation and Management of Girls with Turner Syndrome for Fertility Preservation

Presenter: Kutluk Han Oktay


Kutluk Han Oktay and Enes Taylan
New York Medical College, Valhalla, NY

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Kutluk Han Oktay and Enes Taylan
New York Medical College, Valhalla, NY

Turner Syndrome (TS) is one of the most common sex chromosome disorders affecting 1/2,000-1/2,500 newborn girls (1). In TS, X chromosome haploinsufficiency results in premature ovarian failure due to accelerated rate of germ cell apoptosis (2). Although the great majority of TS cases are infertile, spontaneous pregnancies have been reported in ~ 5% of women with mostly mosaic karyotypes (3). Because of the accelerated ovarian reserve loss in girls with TS, it is crucial to consider fertility preservation (FP) as early as possible in the process (4). In the past 15 years, we developed an algorithm to evaluate and manage TS girls for FP. Here we reviewed our recent experience with that algorithm. Eighteen females with either complete or mosaic TS with mean age of 12.7 (range 11 months – 24 years) were referred for FP evaluation. Of the 18 girls, 11 were found to be already in premature ovarian failure. Of those, 10 were recommended future egg donation and in one case, her 38-year-old mother underwent oocyte cryopreservation for future donation to her daughter. This resulted in the cryopreservation of 22 oocytes for future use. In five Turner mosaic cases, ovarian reserve was already diminished for age (mean serum AMH: 1.36 ± 0.53 ng/mL) and we proceeded with oocyte cryopreservation. This resulted in the cryopreservation of a mean 10.6 ± 1.6 oocytes. In 2 mosaic cases, because the girls were prepubertal and their AMH levels did not yet show age-inappropriate decline, we began surveillance at ages 10 and 13 years with serum AMH measurements and antral follicle counts (AFC) by pelvic ultrasound examinations every 1-3 months. After 1 and 3 years of follow up, the AMH levels stabilized at a mean of 2.04 ± 0.76 and 2.14 ± 0.59 ng/mL, respectively. While we are continuing surveillance with these girls, they will be considered for oocyte cryopreservation when serum AMH levels decline 2 SD below (2 ng/mL) the recently established norms (4). Based on this experience, we suggest that all girls with TS should be evaluated by a specialist as early as possible after the diagnosis to maximize the benefits of fertility preservation and avoid complete depletion of ovarian reserve. The fertility preservation options may include ovarian tissue cryopreservation for prepubertal girls and oocyte cryopreservation for those who are postpubertal. For those who have already experienced ovarian failure, egg donation from a related or unrelated donor may be an option.

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