Turner syndrome: counseling prior to oocyte donation

Abstract

Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.

Y chromosome in Turner syndrome: review of the literature

“…[63][64][65][66][67][68] Extensive immunohistochemical screening for POU5F1 protein expression has been carried out on several types of germ cell tumors using microarrays and has shown that their immunoreactivity is only detectable in gonadoblastoma, seminoma, dysgerminoma and embryonic carcinoma cells. 43 Considering that detection of Y-chromosome-specific sequences in patients with Turner syndrome is necessary in order to prevent the development of gonadoblastoma, 69 clinical characteristics such as signs of hyperandrogenism should also be considered in deciding on the therapeutic approach to be adopted for such patients. This is important because the administration of growth hormone (somatotropin) to patients carrying Y-chromosome fragments may lead to the development of this neoplasm or other androgen-secreting tumors, 70 although this is still a controversial matter.…”

Small Supernumerary Marker Chromosomes (sSMC) in Patients with a 45,X/46,X,+mar Karyotype – 17 New Cases and a Review of the Literature

“…sSMC in a Turner karyotype are abbreviated in the following as sSMC T . There are reviews on clinical aspects of mos 45,X/ 46,X,+mar karyotypes leading to female [Mittwoch, 1992;Ramos, 2007] or male phenotypes [Egozcue et al, 2000]. The question whether the karyotype was mos 45,X/46,XX (/47,XXX) or mos 45,X/46,XY(/47,XXY) [Hsu, 1994;Ogata and Matsuo, 1995] was also addressed and variation of mosaicism in different tissues was analyzed [Park et al, 1999].…”

Kadın İnfertilitesinin Genetik Nedenlerine Güncel Yaklaşım ve Genetik Danışmanlık

“…However, depending on the percentage of cells with 46,XX karyotype remaining in the ovaries, although spontaneous puberty and pregnancy may occur in some individuals, pregnancy cannot be completed in these individuals. This situation is due to the insufficiency of the endometrium and uterus (40) (42). CHH has a heterogeneous clinical phenotype and genetic background.…”