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

Fertility issues and pregnancy outcomes in Turner syndrome

“…We reported four cases of SP with live birth in women with 45,X/47,XXX, suggesting that the presence of a 47,XXX cell line confers a higher chance of conceiving. Although two recent investigations support this hypothesis (33,34), there is a need of larger studies to confirm this finding.…”

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

“…Those not written in English or in which the relevant information was largely missing were excluded. Finally, 26 articles that described 45 patients were selected (Acharya, Jonsrud, van der Hagen, & Maltau, 2003;Akbas et al, 2009;Alves & Silva, 2012;Blair et al, 2001;Bouchlariotou et al, 2011;Eblen & Nakajima, 2003;Everest et al, 2015;Hadnott, Gould, Gharib, & Bondy, 2011;Hishimura-Yonemaru et al, 2017;Improda et al, 2012;Kivinen & Herva, 1980;Kristesashvili, Chipashvili, Jorbenadze, & Greydanus, 2012;Lim et al, 2017;Liu et al, 2013;Lunding et al, 2015;Maciejewska-Jeske, Czyzyk, & Meczekalski, 2015;Martin, Smith, Hughes, & Morrison, 2018;Mavridi et al, 2018;Palmer & Reichmann, 1976;Sahinturk et al, 2015;Saikia, Sarma, & Yadav, 2017;Sybert, 2002;Tauchmanova et al, 2001;Terao, Hashimoto, Nukina, Mannen, & Shinohara, 1996;Venkateshwari et al, 2012;Wang, Yang, Li, & Mu, 2015). Characteristics related to puberty, menstruation, fertility, ovarian function, and karyotypes of the previously reported patients and those of the present case are summarized in Table 1.…”

“…The 45,X/47,XXX karyotype is extremely rare in TS (~1.5%) (Lim et al, 2017). Previous reports have summarized the puberty and fertility characteristics of young 45,X/47,XXX mosaicism patients and found that their phenotype is less severe than that of common TS (Lim et al, 2017;Mavridi, Ntali, Theodora, Stamatelopoulos, & Michala, 2018). Such individuals may develop normally through puberty without estrogen therapy.…”

The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty

“…Its main clinical manifestations include hypergonadotropic hypogonadism due to gonadal dysgenesis, which leads to premature ovarian insufficiency (POI) and subsequent infertility [ 4 – 6 ]. According to the literature [ 7 , 8 ], approximately 30% of TS patients have spontaneous pubertal development, 5%–10% have regular menstrual cycles, and ∼2% experience spontaneous pregnancies. The advancement of reproductive medicine provides the possibility of salvaging fertility in patients with TS whose oocytes or ovarian tissues are collected and preserved before follicles begin to disappear.…”