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
Cites
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Self-citationA SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1
TURNER, H. H. (1938) · Endocrinology · doi:10.1210/endo-23-5-566 · Cited by 1,124
Rosenfeld, R. G. (1990) · Cited by 501
Spontaneous Pubertal Development in Turner's Syndrome
Pasquino, A. M., Passeri, F., Pucarelli, I., Segni, M., & Municchi, G. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.6.3970 · Cited by 386
Lippe, B. M. (1991) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30284-6 · Cited by 252
Saenger, P. H. (1996) · New England Journal of Medicine · doi:10.1056/nejm199612053352307 · Cited by 248
Pregnancy in patients with Turner's syndrome: six new cases and review of literature
Tarani, L., Lampariello, S., Raguso, G., Colloridi, F., Pucarelli, I., Pasquino, A. M., & Bruni, L. A. (1998) · Gynecological Endocrinology · doi:10.3109/09513599809024955 · Cited by 228
Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1
Zinn, A. R., Tonk, V. S., Chen, Z., Flejter, W. L., Gardner, H. A., Guerra, R., Kushner, H., Schwartz, S., Sybert, V. P., Dyke, D. L. V., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302152 · Cited by 186
Clinical phenotype of desmosterolosis
FitzPatrick, D. R., Keeling, J. W., Evans, M. J., Kan, A. E., Bell, J. E., Porteous, M. E., Mills, K. A., Winter, R. M., & Clayton, P. T. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980113)75:2 · Cited by 172
Psychosocial and sexual functioning in women with Turner syndrome
Pavlidis, K., McCauley, E., & Sybert, V. P. (1995) · Clinical Genetics · doi:10.1111/j.1399-0004.1995.tb03929.x · Cited by 154
Research works printed but not linked: 2
- 10.1210/jc.82.6.1810 · DOI
- Vignetti P, 1990, La sindrome di Turner Analisi citogenetica di 165 pazienti con S, di Turner Minerva Pediatr, 42, 25
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Items 201–204 of 204
Pediatric and Adolescent Gynecology
Dowlut‐McElroy, T. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-12431-0.00070-x
La fonction ovarienne chez les femmes ayant un syndrome de Turner
Christin-Maitre, S. (2026) · Bulletin de l'Académie Nationale de Médecine · doi:10.1016/j.banm.2026.05.002
Feng, K., Wei, H., Luo, Y., Li, D., Li, X., Chun, Y., Zhou, L., Tan, S., & Zhu, L. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1873048
Nawroth, F., & von Wolff, M. (2026) · Springer eBooks · doi:10.1007/978-3-032-28679-6_23
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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