The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Pregnancy in patients with Turner's syndrome: Six new cases and review of literature
Abstract
Pregnancy in women with Turner's syndrome (TS) is an exceptional event, but is possible in 2% of cases. It can occur in patients with structural anomalies of the X chromosomes in which the Xq13-q26 region, containing the genes that are thought to control ovarian function, is spared; or in patients with a mosaic karyotype containing an 46,XX cell line, which preserves ovarian function. In our Centre we observed six cases of women with Turner's syndrome conceiving. Out of 13 pregnancies, there were six abortions and eight live-births; among the latter, four babies exhibited malformations. Reviewing the literature shows that out of 160 pregnancies which occurred in 74 women with TS, 29% ended in spontaneous abortion, 7% led to the perinatal death of the fetus, 20% gave birth to malformed babies (TS, Down's syndrome, etc.) and only in 38% of cases were healthy children born. This study suggests that the rare TS patients who are able to procreate should undergo prenatal diagnosis techniques. In sterile TS patients the use of artificial fertilization techniques is a possible solution.
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“Following spontaneous conception, miscarriages are more frequent in individuals with TS compared with the background population: 29%-48% versus 15%.11,511,561,584,585”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [584]
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Cites
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chromosome abnormalities detected at prenatal diagnosis
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Chromosomal Disorders of Sex Development
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Metadata
- Authors
- Tarani, L., Lampariello, S., Raguso, G., Colloridi, F., Pucarelli, I., Pasquino, A. M., & Bruni, L. A.
- Affiliations
- Policlinico Umberto I (IT)
- Venue
- Gynecological Endocrinology
- Publisher
- Informa UK Limited
- Published
- 1998-01
- Volume
- 12
- Issue
- 2
- Pages
- 83-87
- ISSN
- 0951-3590 (ISSN-L)
- 1473-0766
- OpenAlex
- W2120896685
- Cited by
- 228
- References
- 15
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 4 · 2023: 8 · 2022: 4 · 2021: 9 · 2020: 10 · 2019: 6 · 2018: 10 · 2017: 8 · 2016: 3 · 2015: 10 · 2014: 3 · 2013: 13 · 2012: 5
- FWCI
- 1.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gynecological Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- 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, pregnancy, ovarian function, mosaicism, miscarriage, fetal malformations, Down syndrome, prenatal diagnosis, assisted reproduction, infertility
- MeSH terms
- Adult, Female, Humans, Karyotyping, Pregnancy, Pregnancy Complications, Turner Syndrome
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