LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

Bamba, Vaneeta; Levitsky, Lynne L.; Wong, Ashley; Rivera-Cruz, Greysha; Scurlock, Cindy; Lin, Angela E.

doi:10.1007/s10815-022-02457-5

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…Considering the increased health risks of a pregnancy in women with TS, it is strongly recommended to provide preconception counselling ( Bondy et al , 2009 ; Lin et al , 2016 ; Gravholt et al , 2017 ; van Hagen et al , 2017 ; Blakemore et al , 2019 ; Söderström-Anttila et al , 2019 ; Abir et al , 2020 ; Andersen and Gravholt, 2022 ; Bamba et al , 2022 ; Brown, 2022 ). During counselling, several issues should be addressed, including cardiac screening and risks of miscarriage (23–67%), pre-eclampsia (6–7%), small for gestational age (0–7%), and cardiovascular complications such as dissection of the aorta (0–1%) ( Doğer et al , 2015 ; Bernard et al , 2016 ; Cadoret et al , 2018 ; Calanchini et al , 2020 ).…”

Section: Discussionmentioning

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: Discussionmentioning

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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show abstract

“…Each case deserves to be reported to give more information and confidence about FP to young females with the same type of disease and to give doctors more knowledge about FP. And the TS community of patients, families, and healthcare providers has been waiting expectantly for reports of successful cryopreservation and FP ( 4 , 21 , 22 ). This study reports ovarian tissue cryopreservation for the first time applied in a 3-year-old girl with TS to preserve fertility and ovarian endocrine function in China and reviews the application and progress of FP for TS.…”

Section: Introductionmentioning

confidence: 99%

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review

Cheng

Ruan²,

Du³

et al. 2022

Front. Endocrinol.

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BackgroundAlthough it cannot be predicted accurately which young females will develop premature ovarian insufficiency (POI) following chemotherapy or irradiation, patients at high risk of POI should be offered ovarian tissue cryopreservation (OTC). Our ovarian tissue cryobank is the first center in China. OTC was firstly performed on a 3-year-old girl with mosaic Turner syndrome (TS) in China. We report this case and present a literature review about TS girls’ fertility preservation (FP).Case presentationKaryotype analysis of umbilical cord blood showed that the girl was diagnosed with TS, 45,X [19]/46,XX [81]. The girl was a 3-year-old girl when her parents would like OTC to preserve fertility. No abnormality was found in the reproductive system, abdominal and cardiac ultrasound, spinal X-ray, and bone age. She was treated with growth hormone (GH) one year ago because of her short stature. GH has been discontinued now. Because of the high risk of POI, OTC was planned. The hormone level before OTC was FSH 4.27 IU/L, LH 0.00 IU/L, E2 < 11.80 pg/ml, AMH 1.06 ng/ml. Pelvic ultrasound showed that the size of the bilateral ovaries was 1.6 cm×0.7-0.8 cm, no enlarged follicles were found, and the maximum diameter of follicles was 0.2-0.37 cm. Ovarian tissue for OTC was taken from the whole right ovary by laparoscopic surgery, and the antral follicles could be seen in ovarian tissue preparation. Sixteen ovarian cortical slices were cryopreserved by slow freezing, with an average of 1380 follicles in round cortical tissue with a diameter of 2 mm, and the follicular density was about 440/mm3. The ovarian tissue from 10 children with non-TS was cryopreserved in our center, the median age was 5 (range 2-8) years old, and the median number of follicles was 766 (range 163-2250) per 2 mm biopsy. The follicles number in this girl were within normal range.ConclusionTS patients should be evaluated early in childhood to benefit from FP. For highly selected young females with mosaic TS, if the endocrine evaluation does not indicate POI and other health problems do not rule out future pregnancy, it seems reasonable to consider OTC as an FP option.

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LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

Cited by 2 publications

References 11 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

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review

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