Infertility, reproductive timing and ‘cure’ in families affected by Turner Syndrome

Fearon, Kriss

doi:10.1016/j.socscimed.2023.116005

Cited by 3 publications

(4 citation statements)

References 24 publications

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“…Similar to healthcare professionals, parents would also like to have tools to discuss fertility with their daughter, because they too encounter difficulties in determining the appropriate timing and approach to discuss infertility ( King et al , 2016 ; Johnson et al , 2017 ; Fearon, 2023a ). A survey study, which included 215 caretakers of girls with TS, reported that around 50% of the parents had discussed fertility with their daughter ( King et al , 2016 ).…”

Section: Resultsmentioning

confidence: 99%

“…This way, the child would be genetically related to the women with TS. However, it is important to note that intra-familial donation could lead to emotional, ethical, and social complexities ( Fearon, 2023a ). When discussing family planning, it is imperative not to overlook the valid option of leading a childless life.…”

Section: Discussionmentioning

confidence: 99%

“…Society has a major impact on women with TS when it comes to fertility. Fertility is generally regarded as a goal pursued by all individuals, and the decision to remain childless may necessitate justification within one’s social environment ( Fearon, 2023a ; Radkowska-Walkowicz and Maciejewska-Mroczek, 2023 ). This society’s pressure to have children could even be more pronounced in certain ethnic or religious contexts.…”

Section: Discussionmentioning

confidence: 99%

“…The partial or complete absence of one sex chromosome results in an accelerated loss of ovarian reserve at an early age. Consequently, women with TS have to make difficult decisions about family planning and are confronted with insecurities about their fertility and ability to conceive ( Schleedoorn et al , 2020 ; Falsey et al , 2022 ; Fearon, 2023a ). In addition, women with TS are at higher risk of pregnancy complications ( Bernard et al , 2016 ; Calanchini et al , 2020 ).…”

Section: Introductionmentioning

confidence: 99%

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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%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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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Understanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study

Lou,

Jensen,

Vogel

et al. 2024

Journal of Pediatric and Adolescent Gynecology

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Genetics, emotion and care: Navigating future reproductive decisions in families of children with rare genetic conditions

Coveney,

Salem

2024

Sociology Health & Illness

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Little is known regarding the future reproductive decision‐making of parents of children with rare genetic conditions. Our research draws on data from an online survey and qualitative photo‐elicitation interviews with families living with Noonan Syndrome. We demonstrate how genetic knowledge and prenatal genetic testing become embedded in reproductive practices. Yet the idea of using selective genetic technologies to influence reproductive outcomes remains highly emotive. Our analysis reveals that for these parents, the rationalities of reproduction, although technologised and biomedicalised, remain centred on caring for their disabled child. Genetic subjectivities become entangled with responsibilities of care‐giving and emotion tied to the realities of living with disability. We argue that for these parents, reproductive decisions are relational and affective, situated within families and communities and shaped by access to emotional, financial, physical and temporal resources. Our findings provide new insights into the ontologies of selective genetic technologies and reproductive governance in families living with disability.

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Infertility, reproductive timing and ‘cure’ in families affected by Turner Syndrome

Cited by 3 publications

References 24 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

Understanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study

Genetics, emotion and care: Navigating future reproductive decisions in families of children with rare genetic conditions

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