Fertility preservation in girls with Turner syndrome: prognostic signs of the presence of ovarian follicles
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.
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More than one third of girls with Turner syndrome develop signs of puberty; in non-45,X patients this is twice as common.
“More than one third of girls with TS develop signs of puberty, in non-45,X patients this is twice as common.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
The chance for spontaneous pregnancy in Turner syndrome is about 10%, and it is more common in women with mosaic karyotype.
“the chance for spontaneous pregnancy is about 10%, again more common in women with mosaic karyotype.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Only one in five girls with Turner syndrome has spontaneous menarche.
“Only one in five girls has spontaneous menarche”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Findings associated with an increased likelihood of identifying follicles in the ovarian cortex include mosaic karyotype with a 46,XX cell line, spontaneous puberty, measurable AMH, or FSH <10 IU/L.
“Findings that may be associated with an increased likelihood of identifying follicles in the ovarian cortex include (1) mosaic karyotype with a 46,XX cell line, (2) spontaneous puberty, (3) measurable AMH or (4) FSH <10 IU L−1.263,578,579”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
In individuals with TS, AMH is associated with clinical features of ovarian reserve and has the strongest positive correlation with the presence of follicles in ovarian cortex tissue.
“In individuals with TS, AMH is associated with clinical features of ovarian reserve270,581 and has the strongest positive correlation with the presence of follicles in ovarian cortex tissue .263,579,582”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Current knowledge on OTC in TS consists of four cohort studies and four case reports, involving a total of 185 TS patients with ages varying between 3 and 22 years.
“The current knowledge on OTC in TS consists of four cohort studies and four case reports, involving a total of 185 TS-patients with ages varying between 3 and 22 years.263,579,582,614”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Individuals with mosaic TS are more likely to have spontaneous puberty, normal gonadotropin levels, measurable AMH, and follicles in ovarian biopsies compared to those with monosomy X karyotype.
“Individuals with mosaic TS are more likely to have spontaneous puberty, normal gonadotropin levels, a measurable AMH, and follicles in ovarian biopsies as compared to those who have monosomy X karyotype.263,579,608”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Follicles were present in 50%-100% of TS girls with FSH <10 IU/L (including prepubertal girls).
“Follicles were present in 50%-100% of TS girls with FSH <10 IU L−1 (including prepubertal girls).263,579,582”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Spontaneous puberty has a significant positive correlation with the presence of follicles.
“Spontaneous puberty has a significant positive correlation with the presence of follicles.263,579,582,618”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Patients with a mosaic karyotype have the highest prevalence of follicles, 67%-100%.
“Patients with a mosaic karyotype have the highest prevalence of follicles, respectively 67%-100%.263,579,582”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
The odds of finding follicles in patients with a structural X chromosome aberration or a 45,X/47,XXX karyotype is 23%-44%, and with a 45,X karyotype 4%-11%.
“The odds of finding follicles in patients with a structural X chromosome aberration or a 45,X/47,XXX karyotype is 23%-44% and with a 45, X karyotype 4%-11%.263,579,582”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
Nadesapillai et al. performed a unilateral ovariectomy in 93 patients; in 30/93 (32%) follicles were found.
“Nadesapillai et al. performed a unilateral ovariectomy in 93 patients; in 30/93 (32%) follicles were found.263,582”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
FSH <10 IU/L has a positive correlation with the presence of follicles.
“An FSH <10 IU L−1 has a positive correlation with the presence of follicles.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [263]
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- Authors
- Birgit, B., Julius, H., Carsten, R., Maryam, S., Gabriel, F., Victoria, K., Margareta, F., & Outi, H.
- Affiliations
- Karolinska Institutet, Departments of Pediatrics (B.B.), Karolinska University Hospital Huddinge, SE 141 86 Stockholm, Sweden
- Department of Women’s and Children’s Health (H.J.), Uppsala University Hospital, SE 751 85 Uppsala, Sweden
- Clinical Science, Intervention, and Technology (R.C., S.M., F.G., K.V., F.M., H.O.), Karolinska University Hospital Huddinge, SE 141 86 Stockholm, Sweden
- Karolinska University Hospital (SE)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2009-01-01
- Volume
- 94
- Issue
- 1
- Pages
- 74-80
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2022031382
- Cited by
- 254
- References
- 35
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 12 · 2023: 15 · 2022: 15 · 2021: 17 · 2020: 14 · 2019: 18 · 2018: 40 · 2017: 7 · 2016: 6 · 2015: 11 · 2014: 13 · 2013: 17 · 2012: 15
- FWCI
- 11.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Vetenskapsrådet
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, fertility preservation, ovarian tissue cryopreservation, ovarian follicles, ovarian biopsy, spontaneous puberty, mosaicism, anti-Müllerian hormone, follicle-stimulating hormone, prognostic factors, adolescent girls
- MeSH terms
- Adolescent, Adult, Child, Female, Fertility, Follicle Stimulating Hormone, Ovarian Follicle, Humans, Luteinizing Hormone, Magnetic Resonance Imaging, Predictive Value of Tests, Prognosis, Turner Syndrome, Anti-Mullerian Hormone
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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