Deciding on future fertility: considerations of girls with Turner syndrome and their parents to opt for or against ovarian tissue cryopreservation.

RESEARCH QUESTION: What are the considerations of girls with Turner syndrome and their parents to opt for or against ovarian tissue cryopreservation (OTC)? DESIGN: Semi-structured in-depth interviews were conducted with girls with Turner syndrome and their parents until data saturation was reached. Participants were recruited through purposive sampling. Data were analysed using a thematic analysis approach. RESULTS: Thirteen parents and five girls who opted for OTC, and seven parents and three girls who declined OTC, were interviewed. Parents and girls mentioned that OTC offered hope, an opportunity to have genetic offspring and clarity about their current fertility status. Most participants were not afraid of the risks of surgery and trusted healthcare providers with this procedure. In contrast, families had to deal with uncertainties, owing to the lack of information on the success rate and long-term consequences of OTC in this group. Families indicated that they had to go through an important decision-making process in a short period of time, because of the limited number of participants in the OTC study. CONCLUSION: A new opportunity and hope for future fertility were considerations for opting for OTC. However, OTC also came with uncertainties owing to the experimental nature of this procedure in girls with Turner syndrome. Healthcare providers could share these experiences with girls with Turner syndrome and their parents to improve fertility-preservation counselling in this group.

Karyotype - Phenotype Associations in Patients with Turner Syndrome.

Variation in karyotype may be associated with the phenotype of patients with Turner syndrome (TS). Our objective was to identify these associations between karyotype and phenotype in TS patients. This study was part of the European multicentre dsd-LIFE study. We evaluated the associations between different karyotypes of TS patients and age at diagnosis, Turner stigmata, cardiac/renal involvement and gonadal function. Information was available for 328 TS patients. Participants had a monosomy 45,X (46%), mosaicism 45,X/46,XX (10%), karyotype with isochromosome (18%), or other karyotype (26%). The clinical signs of TS were the most severe in patients with monosomy 45,X and the least severe in patients with mosaicism 45,X/46,XX. Patients with isochromosome and y-material showed an intermediate phenotype. Despite the more severe features in patients with monosomy 45,X, the median age at diagnosis was only slightly lower compared to patients with other karyotypes, which suggests opportunities for improvement of knowledge and diagnostics.

Socioeconomic status in patients with Turner syndrome.

Background: Turner syndrome (TS) is a genetic condition with a broad phenotypic spectrum. In contrast to the medical conditions, socioeconomic factors are not well understood. Our goal was to evaluate the socioeconomic status (SES) among women with TS in a European-wide cohort, and to look for possible associated factors. Methods: This study was part of the multicenter dsd-LIFE study, including 328 women with TS. We evaluated SES (education, occupation and income) using patient-reported outcomes. Furthermore, information was collected on karyotype, age at diagnosis, comorbidity, marital status, social integration and discrimination. Reference data on SES were retrieved from the European Social Survey. Linear and logistic regression analyses were performed to compare SES of the study population with the reference population, and to analyze possible associated factors. Results: Women with TS showed a high level of education, employment status and satisfaction with income. In contrast, fewer women were living together and fewer social activities were reported compared with the reference population. The latter factors were more strongly associated with SES than medical factors. The unemployment rate was the highest in TS women aged 26-30 years, while a low education was associated with a later age at diagnosis. No major differences in SES were found among the different karyotype groups. Conclusions: The SES in women with TS was generally comparable with the reference population, although they were less frequently living with a partner or having social activities. More attention is needed for (early) psychosocial screening and support, and strategies for earlier diagnosis of TS are necessary.