Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review

Abstract

Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

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

“…This is corroborated by the demonstration that mosaicisms, spontaneous puberty and normal sex steroids, and gonadotrophins serum concentration are positive prognostic factors for the occurrence of follicles as demonstrated in ovarian biopsies of women with TS [Borgström et al 2009]. Another favorable prognostic factor for spontaneous puberty is the 45,X/47,XXX karyotype [Bouchlariotou et al 2011;Akbas et al 2009]. The patient of this report had all these favorable features.…”

“…It is estimated that 2% of women with TS are at risk of death by aortic dissection or rupture [Bouchlatiotou et al 2011;Mortensen et al 2010]. The chance of dissection in pregnancy reaches 10% in some reports, particularly in the third trimester of the pregnancy and in the puerperium, and its main risk factors are hypertension, aortic coarctation, and bicuspid aortic valve [Bouchlariotou et al 2011]. Bryman et al [2011] reported aortic dissection during pregnancy in women with a postnatal diagnosis of TS, demonstrating that a delayed diagnosis may pose additional risk to pregnancies.…”

“…Due to the high prevalence of gonadal dysgenesis, the majority of women with TS are infertile [Bouchlariotou et al 2011]. Therefore, assisted reproductive techniques (e.g., oocyte donation) constitute the only possible way to achieve conception [Bondy 2007], except in patients with katyotypes 46,XX or 47,XXX where there is a possibility of spontaneous pregnancies [Sybert 2002;Bouchlariotou et al 2011;Eblen and Nakajima, 2003].…”

“…Therefore, assisted reproductive techniques (e.g., oocyte donation) constitute the only possible way to achieve conception [Bondy 2007], except in patients with katyotypes 46,XX or 47,XXX where there is a possibility of spontaneous pregnancies [Sybert 2002;Bouchlariotou et al 2011;Eblen and Nakajima, 2003]. Nevertheless, Mortensen et al, [2002] reported recurrent spontaneous pregnancies in 2 women with a 45,X karyotype and Hadnott et al [2011] found this karyotype in 3 of 5 women who had spontaneous pregnancies among the 246 participants studied.…”

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

“…Sex chromosome aneuploidies occur in 1 in 500 male births and 1 in 850 female births in the United States (3-6) and 1 in 450 in China (2). Turner's syndrome (45,X), Klinefelter's syndrome (47, XXY), and 47,XYY syndrome are common sex chromosome aneuploidies that are associated with fetal loss, infertility, and language developmental delays, among other defects (7)(8)(9). Fetuses with aneuploidy account for 6-11% of all stillbirths and neonatal deaths (10).…”