Fertility Preservation in Girls with Turner Syndrome: Prognostic Signs of the Presence of Ovarian Follicles

TLDR

Turner syndrome girls often retain ovarian follicles into adolescence, suggesting potential for fertility preservation. The study aimed to identify Turner syndrome girls who could benefit from ovarian tissue freezing for fertility preservation. The authors performed laparoscopic ovarian biopsies on 57 Turner syndrome girls (ages 8–19.8 yr), analyzed follicle counts, and measured hormones to assess prognostic factors. Only 26% of biopsied girls had follicles, with higher rates among those with mosaic karyotypes, spontaneous puberty, and normal FSH/AMH, yet these factors were not definitive predictors.

Abstract

Many girls with Turner syndrome have follicles in their ovaries at adolescence.Our objective was to study which girls might benefit from ovarian tissue freezing for fertility preservation.Clinical and laboratory parameters and ovarian follicle counts were analyzed among girls referred by 25 pediatric endocrinologists.Fifty-seven girls with Turner syndrome, aged 8-19.8 yr, were studied at a university hospital.Ovarian tissue was biopsied laparoscopically, studied for the presence of follicles, and cryopreserved. Blood samples were drawn for hormone measurements.Presence of follicles in the biopsied tissue related to age, signs of spontaneous puberty, karyotype, and serum concentrations of gonadotropins and anti-Müllerian hormone were assessed.Ovarian biopsy was feasible in 47 of the 57 girls. In 15 of the 57 girls (26%), there were follicles in the tissue piece analyzed histologically. Six of seven girls (86%) with mosaicism, six of 22 (27%) with structural chromosomal abnormalities, and three of 28 with karyotype 45X (10.7%) had follicles. Eight of the 13 girls (62%) with spontaneous menarche had follicles, and 11 of the 19 girls (58%) who had signs of spontaneous puberty had follicles. The age group 12-16 yr had the highest proportion of girls with follicles. Normal FSH and anti-Müllerian hormone concentrations for age and pubertal stage were more frequent in girls with follicles.Signs of spontaneous puberty, mosaicism, and normal hormone concentrations were positive and statistically significant but not exclusive prognostic factors as regards finding follicles.