Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines

Abstract

This article reviews the existing fertility preservation options for females diagnosed with Turner syndrome and provides practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in females, occurring in approximately one in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility. Although about 70–80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder may possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, so as to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood as the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, while cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remain investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 and ovarian tissue cryopreservation in prepubertal children affected. However, current efficacy of these approaches is unknown in this cohort.. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of desire for parenting. For those with Turner syndrome related cardiac contraindications to pregnancy, utilization of gestational surrogacy allows the possibility of biological parenting by using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed.

Fertility preservation in Turner syndrome: Karyotype does not predict ovarian response to stimulation

“…Yet, our study highlights a significant time‐period between TS diagnosis (before the age of 20 for the three patients) and the referring to a FP centre (almost 10 years). The FP process should be advised at the earliest to avoid time‐related DOR, which occurs for most patients before adulthood . Referral delay to FP Center should be shortened thanks to accurate information from paediatricians during transition to adulthood.…”

“…Table summarizes all oocyte vitrification cases for patients with TS reported in literature so far . Oktay et al recommended oocyte cryopreservation as soon as possible when the TS adolescent initiates pubertal development.…”

“…Different techniques have been suggested over the past decades, such as ovarian cortex cryopreservation and oocyte cryopreservation after vitrification for post‐pubertal girls . FP for TS women has become a contested matter with pros and cons supported by different teams . There are currently no adopted recommendations, and these reproductive technologies raise new dilemmas and ethical concerns for physicians .…”

Disorders of Sexual Development in Adult Women

“…Thus, in such cases, early referral to a reproductive endocrinologist for fertility preservation counseling is warranted. 64 …”

Preservation of female fertility in humans and animal species

“…Several thousand girls and young women worldwide have safeguarded their future fertility using ovarian tissue preservation methods. The most common indication for ovarian tissue banking is the need to preserve the future fertility of girls and women: who are at risk of premature ovarian failure (POF) following exposure to the ovotoxic impact of chemotherapy agents for the treatment of cancer (Gellert et al, 2018;Oktay et al, 2018) or other haematological pathologies such as sickle cell anemia (Demeestere et al, 2015) or beta thalassemia (Matthews et al, 2018); or who carry a high risk of POF for genetic conditions such as Turners syndrome (Oktay et al, 2016); or who will suffer ovarian tissue damage and loss following abdominal trauma.…”