Cited by 228Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersReproductive Biology and Fertility

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

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.

Integrity signals

Registry

Crossref · 10.3109/09513599809024955

Cites

15 of 15 references verified0 citation errors · 0 not checkable

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  • Following spontaneous conception, miscarriages are more frequent in individuals with TS compared with the background population: 29%-48% versus 15%.

    “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”

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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
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › 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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