Routes to parenthood for women with Turner syndrome

Mascarenhas, Mariano; Oliver, James; Bhandari, Harish M

doi:10.1111/tog.12537

Cited by 3 publications

(12 citation statements)

References 43 publications

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“…It can also be caused by 17b-HSD3 = 17b-hydroxysteroid dehydrogenase 3; 5AR = 5 a-reductase; CAIS = complete androgen insensitivity syndrome; DSD = differences of sex development; LH = luteinising hormone; PAIS = partial androgen insensitivity syndrome a mosaicism, whereby some cells carry 46, XX and some carry 45, X0. 1,14 It commonly presents with short stature, ovarian hypofunction or premature ovarian failure and, while some patients may spontaneously enter puberty, few will progress to menarche and full development of secondary sexual characteristics without the aid of exogenous hormones. 14…”

Section: Turner Syndromementioning

confidence: 99%

“…1,14 It commonly presents with short stature, ovarian hypofunction or premature ovarian failure and, while some patients may spontaneously enter puberty, few will progress to menarche and full development of secondary sexual characteristics without the aid of exogenous hormones. 14…”

Section: Turner Syndromementioning

confidence: 99%

“…Exogenous hormones that are carefully tailored to mimic physiology can be given to patients with insufficient gonadal function who may not otherwise spontaneously reach puberty. 2,14,22 Inducing puberty using exogenous estrogens aims to develop secondary sexual characteristics and growth of the uterus, promote an adolescent growth spurt, normalise bone mass and aid psychological maturation. 40 There are no randomised control trials for the optimal approach to induction of puberty, but guidance led by expert opinion suggests an ideal starting age of 11-12 years, low starting doses of estrogen and slow incremental increases, followed by subsequent introduction of a cyclical progestogen to induce bleeding and reduce the risk of endometrial hyperplasia.…”

Section: Hormone Replacement Therapymentioning

confidence: 99%

“…37 Some women with Turner syndrome, especially mosaic Turner syndrome, may have adequate ovarian function to spontaneously enter menarche before subsequent premature ovarian insufficiency. 14,41 As such, early oocyte cryopreservation or embryo freezing may be an option. 41 For those with CAH, spontaneous conception is possible, but the pregnancy course may be complicated and should be managed in a specialist centre.…”

Section: Fertilitymentioning

confidence: 99%

“…Turner syndrome is caused by 45, X0 – the most common female sex chromosome aneuploidy. It can also be caused by a mosaicism, whereby some cells carry 46, XX and some carry 45, X0 1,14 . It commonly presents with short stature, ovarian hypofunction or premature ovarian failure and, while some patients may spontaneously enter puberty, few will progress to menarche and full development of secondary sexual characteristics without the aid of exogenous hormones 14 …”

Section: Classificationmentioning

confidence: 99%

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Differences of sexual development and their clinical implications

Davies

Alleemudder

et al. 2020

The Obstetric & Gynaecologis

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The term 'differences of sex development' (DSD) defines a wide spectrum of conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. Presenting at birth or puberty, or as primary subfertility, the precise diagnosis is difficult, the clinical management is controversial and multidisciplinary team care is imperative. Following reclassification of the nomenclature and numerous advances in the field of molecular genetics, our understanding of the aetiologies underpinning these conditions has expanded. While optimal management of DSD remains controversial, it is clear that individualised, patient-centred and multidisciplinary care is paramount. Learning objectives To understand the basic science of sex determination and gonadal development under hormonal, environmental and genetic control. To understand the natural history, presentation and management options of DSD. To understand the manifold psychosexual and reproductive ramifications of DSD. Ethical issues Gender assignment, the fate of the gonads and timing of genital surgery remain controversial.

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Section: Turner Syndromementioning

confidence: 99%

Section: Turner Syndromementioning

confidence: 99%

Section: Hormone Replacement Therapymentioning

confidence: 99%

Section: Fertilitymentioning

confidence: 99%

Section: Classificationmentioning

confidence: 99%

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Differences of sexual development and their clinical implications

Davies

Alleemudder

et al. 2020

The Obstetric & Gynaecologis

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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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Premature ovarian insufficiency

Sayed,

Jayaprakasan

2024

The Obstetric & Gynaecologis

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Key content: Premature ovarian insufficiency (POI) is a clinical syndrome involving ovarian follicle depletion and defined by loss of ovarian function before 40 years of age. The diagnostic workup in women with suspected POI is in two steps: confirming the diagnosis and establishing its cause; it is important to understand the rationale for performing each diagnostic test, how to interpret results and appropriate multidisciplinary team involvement. Treatment options include various regimens and preparations of hormone replacement therapy (HRT), monitoring and surveillance, induction of puberty in those with very early POI, complimentary treatment and fertility treatment. Management of POI requires a comprehensive and personalised strategy that addresses not only the physical symptoms and disease risks, but also the psychosocial and reproductive health aspects, and it is important that women receive adequate counselling. Learning objectives: To raise awareness of early diagnosis of POI. To be able to discuss the implications of POI for the health of women affected and their families, as well as for different hormonal and non‐hormonal treatment options. To understand various fertility treatment options for POI. Ethical issues: It is important to consider the reproductive and diagnostic implications for women with chromosomal or genetic problems (e.g. Turner syndrome, Fragile X mutation carriers) and for their family members. A diagnosis of POI may have differing implications based on social and cultural factors, and healthcare providers should consider a patient's values, beliefs, cultural background and preferences.

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Routes to parenthood for women with Turner syndrome

Cited by 3 publications

References 43 publications

Differences of sexual development and their clinical implications

Differences of sexual development and their clinical implications

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

Premature ovarian insufficiency

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