Spontaneous procreation in Turner syndrome: report of two pregnancies in the same patient

Abstract

Spontaneous procreation in Turner syndrome (TS) is a rare condition, and repeated gestation is even rarer. We report two spontaneous and successful pregnancies (at the age of 25 and 28 y) in a patient with TS (karyotype: 45,X/47,XXX, in 30 metaphases). Births were by caesarean section due to fetal-pelvic disproportion. Both children, a boy and a girl, were born at full term, with normal physical exam and karyotype. Despite the elevated pregnancy risks associated with TS co-morbidities, this report presents two successful spontaneous pregnancies with normal children in a patient with TS diagnosis after her deliveries. Gynecologists and obstetricians should be aware of this possibility when evaluating women with unusual short stature or dysmorphic features in order to implement a more cautious prenatal care in those being diagnosed with TS.

Report of a pregnant woman with mosaic Turner syndrome

“…[13] Spontaneous pregnancies are rare, and recurrent pregnancy even rarer, in women with Turner syndrome. [14] Considering the chance of spontaneous pregnancy, even in mosaic cases, protection of fertility by oocyte vitrification and/or ovarian tissue freezing should be discussed at a relatively young age, preferably immediately after pubertal development (age 13-15 years), when the ovaries are still functional. Therefore, a number of methods for preserving fertility in such cases have been discussed.…”

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.…”

A Rare Karyotype of Turner Syndrome: 45.X/47.XXX

“…Kapak anomalileriarasındaensıkaortkapağıanomalisi(%24) ardından mitral kapak yetmezliği (%21) bildirilmiştir. TS'de kardiyak anomali sıklığı ve çeşidi ile karyotip arasındabirilişkisaptanmamışolupmozaikkaryotiplerde obezite ve hipertansiyon sıklığı monozomilere göre daha yüksek olarak saptanmıştır (25) Literatürde, 45,X/47,XXXolgularındaeşlikedenkardiyakanomaliler bildirildiğigibi,bildirilmeyenolgulardavardır (23,26). Chenveark.karyotipi45,X,/47,XXXolanTSbirolguda aortkoarktasyonutanımlamışlardır.Buolgununyapılan ekokardiyografisinde minimal mitral yetmezlik dışında kardiyakanomalisaptanmamıştır.…”

“…TS'de pubertal gelişiminin sağlanması vekemikmineralyoğunluğununkorunmasıamaçlı 12 yaş civarında düşük dozda döngüsel östrojen tedavisinin başlanması, bu rejime, evre 3 meme gelişimi ve yeterli uterus büyümesi sağlandıktan sonra aralıklı progesteron tedavisi eklenmesi gerekmektedir (1,15). Literatürde, 45,X/47,XXX TS olgularında over fonksiyonlarının sıklıkla korunduğunu,puberte,spontanmenarş,hattabaşarılı gebelik bildiren yayınlarda mevcuttur (7,8,23 (23,26). Chenveark.karyotipi45,X,/47,XXXolanTSbirolguda aortkoarktasyonutanımlamışlardır.Buolgununyapılan ekokardiyografisinde minimal mitral yetmezlik dışında kardiyakanomalisaptanmamıştır.…”