The DOI matches its Crossref record; 19 of the 20 references it cites were found in a registry or an index.
Fertility and pregnancy outcome in Danish women with Turner syndrome
Abstract
The aim of the investigation was to study fertility in Danish women diagnosed with Turner syndrome (TS), and to describe their offspring. In total, 410 women in the fertile age were registered in the Danish Cytogenetic Central Register with TS between January 1973 and December 1993. Their karyotype were as follows: 49% with 45,X, 23% with mosaicism and a structural abnormality of the second X, 19% with 45,X/46,XX mosaicism, and 9% with 46,XX and a structural abnormality of the second X. Thirty-three women, one with 45,X, 27 with mosaicism and 5 with 46,XX and a structural abnormality of the second X, gave birth to 64 children. Two women had become pregnant after in vitro fertilization, including a woman with 45,X after an egg donation. Thus, 31 women(7.6%) had achieved at least one spontaneous pregnancy, but 48% of the fertile women registered with 45,X/46,XX had 45,X in less than 10% of the analysed cells. Twenty-five of the 64 children had a chromosome analyzed. Six of the 25 examined children, including three siblings, had chromosomal aberrations. No case of Down's syndrome was present, and only two children had malformations. Fertility in women registered with TS is higher than earlier reported. However, only women with 45,X/46,XX mosaicism or 46,XX and structural abnormality of the second X, gave birth to live children after spontaneous pregnancies.
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“Due to ovarian insufficiency, most individuals with TS are infertile, with spontaneous pregnancies occurring in about 10%.11,511,561-564”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [562]
In the citing paper
“The key predictive factors associated with the probability of spontaneous conception are a history of spontaneous menarche, and a 45,X/46,XX karyotype.11,511,561-563”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [562]
In the citing paper
“Data are inconsistent regarding the risk of birth anomalies, which are reported in 0%-24% of spontaneous TS pregnancies compared with ∼3% in the background population.11,511,561,562,584,589”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [562]
In the citing paper
“Reported anomalies include cerebral palsy, neuropsychological disorders, cleft lip and palate, coarctation of the aorta, ambiguous genitalia, hydrocephalus as well as trisomy 21.11,562,563”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [562]
Citations
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Linear growth in patients with Turner syndrome: Influence of spontaneous puberty and parental height
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A woman with an apparent non‐mosaic 45,X delivered a 46,X,der(X) liveborn female
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FERTILITY IN WOMEN WITH TURNERS SYNDROME CASE REPORT AND REVIEW OF LITERATURE
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45, Xo Turner's Syndrome without Evidence of Mosaicism in a Patient with two Pregnancies
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Reduced spontaneous growth hormone secretion in patients with Turner's syndrome
Pirazzoli, P., Mazzanti, L., Bergamaschi, R. C., Perri, A., Scarano, E., Nanni, S., Zucchini, S., Gualandi, S. C., Cicognani, A., & CACCIARI, E. (1999) · Acta Paediatrica · doi:10.1111/j.1651-2227.1999.tb00008.x · Cited by 14
Research works printed but not linked: 2
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- Vignetti P, 1990, La sindrome di Turner Analisi citogenetica di 165 pazienti con S, di Turner Minerva Pediatr, 42, 25
Cited by
Sorted by citations
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101
Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 858
Turner syndrome: mechanisms and management
Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
Bernard, V., Donadille, B., Zenaty, D., Courtillot, C., Salenave, S., Brac de la Perrière, A., Albarel, F., Fèvre, A., Kerlan, V., Brue, T., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew012 · Cited by 266
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224
Metadata
- Authors
- Birkebaek, N., Crüger, D., Hansen, J., Nielsen, J., & Bruun‐Petersen, G.
- Affiliations
- Vejle Sygehus (DK)
- ORCID
- Nielsen, J
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2002-01
- Volume
- 61
- Issue
- 1
- Pages
- 35-39
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2144444063
- Cited by
- 204
- References
- 20
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 7 · 2021: 7 · 2020: 12 · 2019: 11 · 2018: 40 · 2017: 4 · 2016: 4 · 2015: 4 · 2014: 2 · 2013: 5 · 2012: 3
- FWCI
- 2.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Biology and Fertility
- Keywords
- Turner syndrome, female fertility, pregnancy outcomes, 45,X/46,XX mosaicism, 45,X, spontaneous conception, Down syndrome, malformations, in vitro fertilization, oocyte donation
- MeSH terms
- Adolescent, Adult, Chromosome Aberrations, Denmark, Female, Fertility, Humans, Middle Aged, Pregnancy, Pregnancy Complications, Pregnancy Outcome, Turner Syndrome
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