Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology

Lin, Angela E.; Karnis, Megan Freebury; Calderwood, Laurel; Crenshaw, Melissa; Bhatt, Ami B.; Souter, Irene; Silberbach, Michael; Reindollar, Richard H.

doi:10.1016/j.fertnstert.2016.01.042

Cited by 11 publications

(6 citation statements)

References 5 publications

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“…One area for improvement in the care for women with Turner syndrome considering pregnancy is the creation of registries, which are available in some Nordic countries and France to provide long‐term follow‐up of the outcome of pregnancies for both mother and child (Hagman, Loft, et al, ). This is currently lacking in the United States (Lin et al, ), but under development as a self‐reporting patient registry (Prakash, Lugo‐Ruiz, et al, ). In addition to outcome data focusing on obstetric and fetal/neonatal morbidity, it will be important to extend ongoing population‐based studies of aortic growth (Mortensen et al, ) to assess whether pregnancy has an effect.…”

Section: Fertility and Pregnancymentioning

confidence: 99%

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Lin

Prakash

Andersen

et al. 2019

American J of Med Genetics Pt A

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Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome

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Section: Fertility and Pregnancymentioning

confidence: 99%

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Lin

Prakash

Andersen

et al. 2019

American J of Med Genetics Pt A

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“…Although awareness regarding this topic has increased, 92% of healthcare professionals still expressed interest in receiving extra training in fertility counselling. Moreover, appropriate tools and resources for facilitating effective fertility counselling services were highly recommended ( Lin et al , 2016 ; Morgan et al , 2019 ; Theroux et al , 2022 ).…”

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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“…In patients with TS, spontaneous pregnancies are very rare and only occur in about 2-5% of cases, mostly, however, in patients with mosaicism [62][63][64][65][66]. Standardised pregnancy care has improved perinatal prognosis for both mother and child [67], thus national registries for monitoring women with TS seeking fertility have been suggested [68]. Fertility counselling is not yet routinely offered to all patients [69], but standardized and frequent specialist fertility counselling should be implemented as primary ovarian insufficiency and infertility is an almost inevitable risk in patients with TS.…”

Section: Fertilitymentioning

confidence: 99%

Challenges Waiting for an Adult with DSD

Nowotny¹,

Reisch²

2022

Horm Res Paediatr

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Disorders/differences of sex development (DSD) comprise a heterogeneous group of inborn conditions where the individual’s sex chromosomes, gonads and/or anatomical sex are discordant. Since the Chicago consensus conference in 2005, multidisciplinary care has been implemented in specialised pediatric tertiary care centres and clinical practice has substantially changed towards a more holistic approach. Psychological support has become a key factor in the management of DSD. After pediatric care, one of the main challenges is the transition of patients to expert care in adulthood. Patients frequently experience difficulties in accessing specialised medical care in adulthood resulting in loss-to-follow-up affecting the patients’ physical and psychological health as well as quality of life. Clinical features and long-term outcome are highly variable in most DSD conditions. Although medical care has improved, morbidity and mortality are increased in all conditions. A particular challenge in the care of DSD patients in adulthood is optimisation of fertility potential. Ideally this is addressed already in adolescence and requires close interaction of pediatricians and adult endocrinologists but also urologists, andrologists or gynecologists and psychologists. This review addresses issues relating to transition of DSD care from the pediatric to adult care as well as health-related challenges in adulthood in DSD.

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Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology

Cited by 11 publications

References 5 publications

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

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

Challenges Waiting for an Adult with DSD

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