Prediction of spontaneous puberty in Turner syndrome based on mid-childhood gonadotropin concentrations, karyotype, and ovary visualization: a longitudinal study
Abstract
AIMS: To investigate whether karyotype, mid-childhood (6-10 years) follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and ultrasound ovary visualization results can be used as indicators of spontaneous puberty in Turner syndrome (TS). METHODS: The analysis was based on clinical and biochemical data from 110 TS girls aged >13 years at the end of the study (1,140 visits between 1996 and 2015). The study population was divided according to karyotype: 45,X and non-45,X. RESULTS: The mean age ± standard deviation at diagnosis was 10.7 ± 4.0 years, and the follow-up duration was 5.9 ± 3.3 years. Spontaneous puberty was confirmed in 48% and menarche in 20% of the subjects, less frequently in 45,X girls. The mean age at Tanner stage B2 was 13.7 ± 2.4 years and that at menarche 14.2 ± 1.7 years, regardless of the karyotype. The median FSH level at 6-10 years was 8.16 IU/L, which was significantly lower than <6 years and >10 years. The median LH level at 6-10 years was 0.35 IU/L, which was lower than >10 years. The chance of spontaneous menarche was decreased in girls with FSH ≥6.7 IU/L between 6 and 10 years. CONCLUSIONS: Although spontaneous puberty and menarche occur more frequently in non-45,X girls, the karyotype cannot be used to predict them. However, the chance of spontaneous menarche can be predicted based on gonadotropin cut-off values. There was no correlation between ultrasound ovary visualization results and spontaneous puberty.
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Circulating concentrations of both FSH and LH present a biphasic pattern in Turner syndrome individuals with hypogonadism: elevated after birth, declining to values similar to girls with normal ovarian function during mid-childhood, and rising again in the peripubertal years or at the time of loss of ovarian function.
“Circulating concentrations of both FSH and LH present a biphasic pattern in TS individuals with hypogonadism: elevated after birth, declining to values similar to girls with normal ovarian function during mid-childhood, and rising again in the peripubertal years, or at the time of loss of ovarian function.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [267]
FSH values ≥6.7 IU L−1 in 6-10-year-old girls have been reported to reflect a higher rate of ovarian insufficiency.
“FSH values ≥6.7 IU L−1 in 6-10-year-old girls have been reported to reflect a higher rate of ovarian insufficiency.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [267]
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 [267]
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 [267]
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 [267]
The results of pelvic ultrasound in girls with Turner syndrome have not yet proven useful as a marker of spontaneous puberty.
“The results of pelvic ultrasound in girls with TS have not yet proven useful as a marker of spontaneous puberty.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [267]
Both ultrasound ovarian visualization and uterine volume in comparison to prepubertal controls did not help predict spontaneous puberty.
“Both ultrasound ovarian visualization267 and uterine volume in comparison to prepubertal controls277 did not help predict spontaneous puberty.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [267]
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- Authors
- Hankus, M., Soltysik, K., Szeliga, K., Antosz, A., Drosdzol-Cop, A., Wilk, K., Zachurzok, A., Malecka-Tendera, E., & Gawlik, A. M.
- Affiliations
- Medical University of Silesia (PL)
- ORCID
- Venue
- Hormone Research in Paediatrics
- Publisher
- S. Karger AG
- Published
- 2017-12-22
- Volume
- 89
- Issue
- 2
- Pages
- 90-97
- ISSN
- 1663-2818 (ISSN-L)
- 1663-2826
- OpenAlex
- W2776284305
- Cited by
- 36
- References
- 23
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 3 · 2023: 4 · 2022: 8 · 2021: 3 · 2020: 5 · 2019: 5 · 2018: 1
- FWCI
- 1.99
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Hormone Research in Paediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- 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
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Keywords
- Turner syndrome, spontaneous puberty, menarche, follicle-stimulating hormone, luteinizing hormone, gonadotropin levels, karyotype, 45,X, ovarian ultrasonography, middle childhood, Tanner stages
- MeSH terms
- Adolescent, Child, Female, Follicle Stimulating Hormone, Humans, Karyotyping, Luteinizing Hormone, Longitudinal Studies, Ovary, Puberty, Turner Syndrome, Ultrasonography, Karyotype
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