Fertility Preservation in Turner Syndrome and Other Gonadal Dysgenesis

Abstract Context: Many girls with Turner syndrome have follicles in their ovaries at adolescence. Objective: Our objective was to study which girls might benefit from ovarian tissue freezing for fertility preservation. Design: Clinical and laboratory parameters and ovarian follicle counts were analyzed among girls referred by 25 pediatric endocrinologists. Subjects and Setting: Fifty-seven girls with Turner syndrome, aged 8–19.8 yr, were studied at a university hospital. Interventions: Ovarian tissue was biopsied laparoscopically, studied for the presence of follicles, and cryopreserved. Blood samples were drawn for hormone measurements. Main Outcome Measures: 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. Results: 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. Conclusions: Signs of spontaneous puberty, mosaicism, and normal hormone concentrations were positive and statistically significant but not exclusive prognostic factors as regards finding follicles.

Download Full-text

Fertility preservation in an adolescent with Turner syndrome

Case Studies in Assisted Reproduction ◽

10.1017/cbo9781139794671.021 ◽

2015 ◽

pp. 70-72

Author(s):

Michel De Vos ◽

Nick S. Macklon ◽

Human M. Fatemi ◽

Robert J. Norman ◽

Pasquale Patrizio

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

Download Full-text

Addressing practical concerns surrounding fertility preservation in patients with Turner syndrome

Fertility and Sterility ◽

10.1016/j.fertnstert.2019.05.033 ◽

2019 ◽

Vol 112 (4) ◽

pp. 651-652

Author(s):

Jennifer K. Blakemore ◽

Lili S. Wei ◽

Gwendolyn P. Quinn

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

Download Full-text

DuoStim: a new option for fertility preservation for a woman with Turner syndrome

Gynecological Endocrinology ◽

10.1080/09513590.2020.1822805 ◽

2020 ◽

Vol 36 (12) ◽

pp. 1144-1148

Author(s):

Ayumu Ito ◽

Yukiko Katagiri ◽

Yuko Tamaki ◽

Yusuke Fukuda ◽

Ayako Oji ◽

...

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

Download Full-text

Progress in Fertility Preservation Strategies in Turner Syndrome

Frontiers in Medicine ◽

10.3389/fmed.2020.00003 ◽

2020 ◽

Vol 7 ◽

Cited By ~ 3

Author(s):

Mudan Ye ◽

John Yeh ◽

Ioanna Kosteria ◽

Li Li

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

Download Full-text

Fertility preservation in Turner syndrome

Fertility and Sterility ◽

10.1016/j.fertnstert.2015.11.042 ◽

2016 ◽

Vol 105 (1) ◽

pp. 13-19 ◽

Cited By ~ 33

Author(s):

Michaël Grynberg ◽

Maud Bidet ◽

Julie Benard ◽

Marine Poulain ◽

Charlotte Sonigo ◽

...

Keyword(s):

Turner Syndrome ◽

Fertility Preservation

Download Full-text

Morphological features of female gonadal dysgenesis and karyotype in patients with Shereshevsky-Turner syndrome

V F Snegirev Archives of Obstetrics and Gynecology ◽

10.18821/2313-8726-2016-3-2-87-91 ◽

2016 ◽

Vol 3 (2) ◽

pp. 87-91

Author(s):

Evgeniya A. Kogan ◽

O. E Ushakova ◽

Yu. N Kur’yanova ◽

N. M Fayzullina ◽

O. K Stupko

Keyword(s):

Turner Syndrome ◽

Gonadal Dysgenesis ◽

Control Group ◽

Sry Gene ◽

Ki 67 ◽

Inhibin A ◽

Tissue Samples ◽

Blood Lymphocytes ◽

Ovarian Stroma ◽

Morphological Variants

The aim of the work - the study of the morphological and immunophenotypic variants of the structure gonads in gonadal dysgenesis (GD) and karyotypic characteristics of patients with the Shereshevsky-Turner syndrome (SHTS). There were investigated the tissue samples of the removed gonads and ovaries from 16 SHTS patients with GD and 11 patients from the control group without SSHT whose ovaries had been removed due to parovarian cysts. The morphological study was executed with immunohistochemical typing of gonadal tissue with the detection of expression: Ki-67, Vimentin, Desmin, Inhibin A, ER ( «DAKO»), AR ( «SpringBioscience»). The karyotype was investigated by means of cytogenetic method, whereas the presence of the SRY-gene - with aid of PCR-reaction in blood lymphocytes. As a result, there were established morphological variants of GD in SHTS: streak-gonads (8 patients), GD with ovarian stroma (6 patients), GD with the formation of the gonadoblastoma (2 patients). At that in the blood lymphocytes of SHTS patients there were discovered following karyotypes: 45Х, 45X/46XY, 45X/46XX, 45, Х, t (4, 19) (р14, q13.3), 45, Х[5]/46, Xi(X)(q10)[20], 45, Х[31]/46, Xi(X)(q10)[19], 46Xpsui(Y)(q10)[6]/45, Х[3]/46 XY[20]. There were revealed statistically significant correlations between karyotypes of blood lymphocytes and immunophenotypes of cell of the genital cord stroma, fibroblasts and GD germinal cells. Markers directly relating to the survival of follicles: inhibin-a, AR, ER were of the greatest importance for the development of someone or other morphological variant. GD in patients with ovarian stroma were differed in the greatest expression of ER (p < 0.05). SRY-gene was detected in the 1 patient with the lack of Y-chromosome. In two patients gonadoblastoma was found in GD without the presence of the SRY-gene in blood lymphocytes. The data obtained testify to a variety of morphologic and immunophenotypic variants of GD in SHTS, which are not always correlated with the karyotype of blood lymphocytes ofpatients that may partly reflect a possible discrepancy between the karyotypeofblood lymphocytes and DG tissue due to gene mosaicism.

Download Full-text

On a case of a Turner Syndrome with a rare chromosomal finding (partial mosaic)

Acta geneticae medicae et gemellologiae ◽

10.1017/s1120962300014967 ◽

1966 ◽

Vol 15 (4) ◽

pp. 371-385

Author(s):

C. Zara ◽

A. Mannini ◽

U. Magrini

Keyword(s):

Turner Syndrome ◽

Gonadal Dysgenesis ◽

Chromosome Analysis ◽

Primary Amenorrhea ◽

Pertinent Literature

SUMMARYClinical and chromosomal studies of a case of gonadal dysgenesis. The patient presented primary amenorrhea, rudimentary uterus, ipoplastic tubes and gonadad streak. No Barr bodies or drumsticks were found, and the chromosome analysis revealed a mosaic of the type XO/X + centric fragment. The pertinent literature is reviewed, and attention is drawn to the possible existence of a secretion of the steroid type in the Leydig-like cells present in the gonadal streak.

Download Full-text