Homologous in vitro fertilization in Turner syndrome: insights from a case report

Manno, Massimo; Tomei, Francesco; Cervi, Marta; Gaspardo, Gianfranco; Antonini‐Canterin, Francesco; Nicolosi, Gian Luigi

doi:10.1016/j.fertnstert.2008.12.039

Cited by 5 publications

(5 citation statements)

References 22 publications

(18 reference statements)

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“…Numerous investigations have used PGT to enhance reproductive outcomes, by selecting euploid embryos for transfer, with the aim of optimizing live birth rates, while minimizing the incidence of miscarriages and congenital abnormalities ( Giles et al , 2020 ; Gungor et al , 2021 ; Liao et al , 2021 ; Acet et al , 2022 ). PGT was performed at different phases of embryogenesis: biopsy of polar body ( Manno et al , 2009 ), Day 3 ( Giles et al , 2020 ) or Day 5 ( Liao et al , 2021 ). The study by Liao et al (2021) revealed a higher incidence of sex chromosome aneuploidy in the embryos of women with TS versus women without TS (7% vs 1.6%).…”

Section: Resultsmentioning

confidence: 99%

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome—a scoping review

van der Coelen,

van der Velden,

Nadesapillai

et al. 2024

Human Reproduction Update

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BACKGROUND Girls with Turner syndrome (TS) lack a partial or complete sex chromosome, which causes an accelerated decline of their ovarian reserve. Girls have to deal with several dilemmas related to their fertility, while only a limited number of them are referred to a fertility specialist and counselled about options of family planning on time. OBJECTIVE AND RATIONALE This scoping review provides an update of the literature on fertility in girls with TS throughout their lifespan and aims to propose a clinical practice guideline on fertility in TS. SEARCH METHODS Databases of PubMed, Embase, and Web of science were searched using the following key terms: Turner syndrome, fertility, puberty, pregnancy, sex-hormones, karyotype, fertility preservation, assisted reproductive techniques, and counselling, alongside relevant subject headings and synonymous terms. English language articles published since 2007 were critically reviewed. Pregnancies after using donated oocytes and data about girls with TS with Y-chromosomal content were excluded. OUTCOMES This search identified 1269 studies of which 120 were extracted for the review. The prevalence of natural conception ranged from 15% to 48% in women with 45,X/46,XX, 1% to 3% in women with 45,X, and 4% to 9% in women with other TS karyotypes. When assessing a girl’s fertility potential, it was crucial to determine the karyotype in two cell lines, because hidden mosaicism may exist. In addition to karyotype, assessment of anti-Müllerian hormone (AMH) played a significant role in estimating ovarian function. Girls with AMH above the detection limit were most likely to experience spontaneous thelarche, menarche, and ongoing ovarian function during the reproductive lifespan. Fertility preservation became more routine practice: vitrification of oocytes was reported in 58 girls with TS and a median of five oocytes were preserved per stimulation. Ovarian tissue cryopreservation has demonstrated the presence of follicles in approximately 30% of girls with TS, mostly in girls with mosaic-TS, spontaneous puberty, and AMH above the detection limit. Although girls and their parents appreciated receiving counselling on fertility in TS, only one in ten girls with TS received specialized counselling. Unfamiliarity with fertility preservation techniques or uncertainties regarding the eligibility of a girl for fertility preservation constituted barriers for healthcare professionals when discussing fertility with girls with TS. WIDER IMPLICATIONS There currently is a high demand for fertility preservation techniques in girls with TS. A reliable prognostic model to determine which girls with TS might benefit from fertility preservation is lacking. Only a minority of these girls received comprehensive fertility counselling on the full spectrum of fertility, including uncertainties of fertility preservation, pregnancy risks, and alternatives, such as adoption. Fertility preservation could be a viable option for girls with TS. However, the question remains whether enough oocytes can be obtained for a realistic prospect of a live birth. It is important that girls and parents are empowered with the necessary information to make a well-informed decision.

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Section: Resultsmentioning

confidence: 99%

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome—a scoping review

van der Coelen,

van der Velden,

Nadesapillai

et al. 2024

Human Reproduction Update

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“…Although women with mosaic karyotypes 45,X/46,XX or 45,X/47,XXX are more likely to be fertile (4, 6), spontaneous pregnancies have also been reported in women with nonmosaic Turner syndrome (2). Further on, controlled ovarian stimulation and in vitro fertilization has been reported with success in mosaic Turner with high grade of 45,X cells (18). Considering the improved success of oocyte cryopreservation with vitrification, the patient reported here has a realistic yet undetermined chance of conceiving in the future.…”

Section: Discussionmentioning

confidence: 99%

“…The patient will. however, have to undergo either preimplantation genetic diagnosis and/or prenatal genetic evaluation once these oocytes are used for IVF because of an increased risk for aneuploidy in Turner patient's offspring (18)(19)(20).…”

Section: Discussionmentioning

confidence: 99%

Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure

Oktay

Rodriguez‐Wallberg

Şahin

2010

Fertility and Sterility

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“…Types of homologous IVF include oocyte collection for immediate IVF and embryo transfer, or various methods of fertility preservation (cryopreservation of individual mature oocytes, cryopreservation of ovarian tissue containing immature primordial follicles, or cryopreservation of embryos) for possible future use in an individual with actual or expected decline in ovarian function. While immediate IVF and embryo transfer has been used successfully in TS, harvesting of oocytes or ovarian tissue for storage in girls and women with TS remains experimental, despite an increasing body of literature …”

Section: Assisted Reproductionmentioning

confidence: 99%

“…While immediate IVF and embryo transfer has been used successfully in TS, harvesting of oocytes or ovarian tissue for storage in girls and women with TS remains experimental, despite an increasing body of literature. 17,47 Fertility preservation…”

confidence: 99%

Fertility in Turner syndrome

Hewitt

Jayasinghe

Amor

et al. 2013

Clinical Endocrinology

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SummaryThere is increasing interest in fertility and use of assisted reproductive technologies for women with Turner syndrome (TS). Current parenting options include adoption, surrogacy, and spontaneous and assisted reproduction. For women with TS, specific risks of pregnancy include higher than usual rates of spontaneous abortion, foetal anomaly, maternal morbidity and mortality. Heterologous fertility assistance using oocytes from related or unrelated donors is an established technique for women with TS. Homologous fertility preservation includes cryopreservation of the patient's own gametes prior to the progressive ovarian atresia known to occur: preserving either mature oocytes or ovarian tissue containing primordial follicles. Mature oocyte cryopreservation requires ovarian stimulation and can be performed only in postpubertal individuals, when few women with TS have viable oocytes. Ovarian tissue cryopreservation, however, can be performed in younger girls prior to ovarian atresia -over 30 pregnancies have resulted using this technique, however, none in women with TS. We recommend consideration of homologous fertility preservation techniques in children only within specialized centres, with informed consent using protocols approved by a research or clinical ethics board. It is essential that further research is performed to improve maternal and foetal outcomes for women with TS.

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Homologous in vitro fertilization in Turner syndrome: insights from a case report

Cited by 5 publications

References 22 publications

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome—a scoping review

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome—a scoping review

Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure

Fertility in Turner syndrome

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