Literature DB >> 30012427

A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.

Artemis Mavridi1, Georgia Ntali2, Marianna Theodora3, Kimon Stamatelopoulos4, Lina Michala3.   

Abstract

BACKGROUND: Turner syndrome is a chromosomal abnormality, due to a total or partial loss of 1 of the X chromosomes and is mostly characterized clinically by short stature and primary ovarian insufficiency. Spontaneous pregnancies are rare (5%) and of relatively high risk. This is 1 of few reported cases of spontaneous conception and favorable prognosis in a patient with Turner syndrome and a 45,X/47,XXX karyotype. CASE: A 21-year-old woman with Turner mosaicism (45,X/47,XXX) who had a full-term, uncomplicated pregnancy after spontaneous conception, gave birth to a healthy female (46,XX) infant. SUMMARY AND
CONCLUSION: Spontaneous pregnancies in women with Turner syndrome are a rarity. Fertility preservation methods are being discussed. Due to the high reported incidence of neonatal, obstetric, maternal, and especially cardiovascular complications in those pregnancies, close monitoring is essential.
Copyright © 2018 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Disorder of sex development; Fertility preservation; Spontaneous pregnancy; Turner syndrome; X/XXX mosaicism

Mesh:

Year:  2018        PMID: 30012427     DOI: 10.1016/j.jpag.2018.07.005

Source DB:  PubMed          Journal:  J Pediatr Adolesc Gynecol        ISSN: 1083-3188            Impact factor:   1.814


  3 in total

Review 1.  Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature.

Authors:  Ruiyi Tang; Lin Lin; Zaixin Guo; Haiyan Hou; Qi Yu
Journal:  Mol Genet Genomic Med       Date:  2019-05-08       Impact factor: 2.183

2.  Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases.

Authors:  Xinran Lu; Chaohong Wang; Yuxiu Sun; Junxiang Tang; Keting Tong; Jiansheng Zhu
Journal:  Mol Cytogenet       Date:  2021-01-06       Impact factor: 2.009

3.  Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicism.

Authors:  Min Zhang; LingJi Chen; Meihuan Chen; Yan Wang; Bin Liang; Na Lin; Xiaoqing Wu; Linshuo Wang; Liangpu Xu; Hailong Huang
Journal:  Mol Genet Genomics       Date:  2022-07-28       Impact factor: 2.980

  3 in total

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