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

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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

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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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Backeljauw, P. F., & Gutmark‐Little, I. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_6
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Ramamurthy, S., Karuppusamy, A., & Chaturvedula, L. (2018) · Indian Journal of Clinical Anatomy and Physiology · doi:10.18231/2394-2126.2018.0032
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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)
ORCID: Tarani, L.
Colloridi, F.
Venue: Gynecological Endocrinology
Publisher: Informa UK Limited
Published: 1998-01
Volume: 12
Issue: 2
Pages: 83-87
ISSN: 0951-3590 (ISSN-L)
1473-0766
DOI: 10.3109/09513599809024955
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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Pregnancy in patients with Turner's syndrome: Six new cases and review of literature

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