A 14-year-old girl with TS showing an exclusively 45,X cell line in lymphocytes, buccal cells, and urine cells in the presence of ovarian follicles. Intervention(s): Laparoscopic unilateral oophorectomy was performed to obtain ovarian cortex tissue for fertility preservation purposes. One cortex fragment was used to determine the number of follicles by serial sectioning and staining, to perform fluorescence in situ hybridization (FISH) analysis and an in vitro growth (IVG) assay. Main Outcome Measure(s): FISH analysis of ovarian cells and the capacity of unilaminar follicles to develop to secondary follicles. Result(s): FISH analysis revealed that most oocytes had a normal tetraploid X chromosomal content, the stromal cell compartment had both 45,X and 47,XXX cell lines, and all follicular granulosa cells had a 45,X karyotype. IVG assay showed that unilaminar follicles were capable of maturing to secondary follicles, but that the granulosa layers and membrana granulosa were distorted.
Conclusion(s):We report a case where follicles were found in a girl with monosomic TS, in the presence of a cryptic mosaicism. Karyotyping of extraovarian cells was not predictive of the karyotype of ovarian cells in the same patient. Despite the presence of normal oocytes, our observation that all analyzed follicles contained exclusively 45,X granulosa cells embedded in mosaic 45,X/47,XXX stromal tissue may have functional consequences for follicular development.
<b><i>Introduction:</i></b> Ovarian tissue cryopreservation (OTC) has proven to be effective in other patient groups, but the effectiveness in girls with Turner syndrome (TS) is still unclear. Guidelines for counselling about OTC in TS are lacking. The aim of this study was to gain insight into the experiences of patients, parents, and healthcare providers with the decision-making process regarding OTC in girls with TS. <b><i>Methods:</i></b> Within a year after counselling, a survey was sent to 132 girls with TS and their parents. Furthermore, focus groups were conducted with (1) gynaecologists with subspeciality reproductive medicine, (2) paediatric endocrinologists, (3) parents of girls aged 2–12, and (4) parents of girls aged 13–18. Transcripts were analysed using a thematic analysis approach. <b><i>Results:</i></b> The response rate of the survey was 45%. Of the survey respondents, 90% appreciated counselling regarding their future parenting options and considered it an addition to existing healthcare. Girls with TS and their parents indicated that the option of OTC raised hope for future genetic offspring and instantly made them feel that their only option was to seize this opportunity. Gynaecologists and paediatricians found it challenging to truly make families grasp a realistic perspective of OTC in girls with TS. <b><i>Discussion and Conclusion:</i></b> Offering young girls with TS the possibility of fertility preservation in an experimental setting raised high hopes and led to challenges for healthcare providers in ensuring a considered decision. The appropriate moment for counselling should be tailored to the individual and discussed with patient, parents, and paediatrician.
Purpose To explore patients' and professionals' experiences with fertility navigators in female oncofertility care. Methods Semi-structured in-depth interviews were conducted with nine female cancer patients and six healthcare professionals to explore their experiences. They were recruited from an academic medical center (referral clinic for female fertility preservation care). Data were analyzed using the concepts of grounded theory. Results Patients were satisfied about the supportive role of the fertility navigator in their fertility preservation process: fertility navigators added value as they became "familiar faces" and provided information, emotional support, personal care, and served as patients' primary contact person. The fertility navigators had a pleasant collaboration with professionals and supported professionals by taking over tasks. To improve the role of fertility navigators, it was suggested that they should always be present in fertility preservation counseling, and attention should be paid to their availability to improve continuity of care. Conclusion Fertility navigators provide personal care, improve satisfaction in patients in their oncofertility process, and support professionals. The overview of issues that need to be addressed when assigning fertility navigators in female oncofertility care combined with the improvement suggestions could be used by other centers when considering implementing fertility navigators.
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