Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary

Abstract

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.

A retrospective series of homologous intracytoplasmic sperm injection cycle results of 99 women with mosaic Turner syndrome

“…The authors argued that karyotyping of extraovarian cells was not predictive of the karyotype of ovarian cells in the same patient. This case report also contributes to the explanation of the high number of follicles in our patients [19]. Furthermore, the determination of the rate of normal karyotype cells as approximately 80% in cases with TS who conceived is a data supporting our suggestion.…”

The decision-making process regarding ovarian tissue cryopreservation in girls with Turner syndrome by patients, parents, and healthcare providers: a mixed-methods study

“…The research ethics committee and a board of patients and patient representatives approved the TurnerFertility study on the condition that all girls with TS are offered OTC, including those with a monosomic karyotype. Despite the small chances of success in this patient group, literature about nding oocytes in girls with a monosomic karyotype has been published (9,15,33,34). In some cases, healthcare providers had di culty with the idea of performing an invasive procedure when the odds of success in restoring fertility were small.…”

First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

“…In women with TS who have structural aberrations involving the X chromosome and in mosaic cases, ovarian reserve may persist for a variable period post menarche [23]. However, there is no reliable genotype-phenotype correlation [24,25]; no study has thus far reported a link between the level of TS mosaicism and biomarkers of ovarian reserve (AMH and AFC), and accelerated follicle depletion is still likely to occur in women with TS mosaicism. Fertility preservation in young individuals with TS is considered controversial for several reasons.…”