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Cited by 114Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersOvarian function and disorders

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

Hagen, C. P., Main, K. M., Kjaergaard, S., Juul, A.·2010·Human Reproduction
DOI 10.1093/humrep/deq291
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Abstract

BACKGROUND: Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function. METHODS: A cohort of 70 TS patients (0-16 years) followed at a tertiary referral centre for paediatric endocrinology were included. Longitudinal measurements of reproductive hormones (FSH, LH, inhibin B and estradiol) prior to hormonal replacement treatment in 66 patients related to karyotype (A, 45,X; or B, miscellaneous karyotypes) and ovarian function (spontaneous puberty or absent spontaneous puberty) were compared with an age-matched reference range of 2406 healthy Danish females. RESULTS: The prevalence of spontaneous puberty was 6% for 45,X and 54% for miscellaneous karyotypes, P = 0.001. In all TS patients, gonadotrophins were higher during infancy and at expected puberty compared with levels at mid-childhood, where 21/25 and 23/27 had FSH and LH levels, respectively, within the reference range. In patients with absent spontaneous puberty, 10/12 had FSH in the reference range during the mid-childhood nadir. 45,X-TS patients had undetectable inhibin B at 0-16 years. Ovarian failure was predicted in 20/20 patients with exclusively undetectable inhibin B, while 9/10 with detectable inhibin B entered puberty spontaneously. Estradiol levels were elevated from 4 to 8 years. CONCLUSIONS: Ovarian function in TS patients is associated with the specific karyotype, and multiple undetectable inhibin B values during mid-childhood may predict absence of spontaneous puberty, although the specificity of the test is low. The biphasic age pattern of gonadotrophins was preserved in all patients, and spontaneous gonadotrophins are not useful as a diagnostic marker for TS in girls aged 6-10 years.

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Crossref · 10.1093/humrep/deq291

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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 [266]

  • 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 [266]

  • 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 [266]

  • 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 [266]

  • Low AMH and undetectable inhibin B can be used to predict ovarian insufficiency in Turner syndrome.

    “Low AMH and undetectable inhibin B can also be used to predict ovarian insufficiency in TS”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [266]

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Authors
Hagen, C. P., Main, K. M., Kjaergaard, S., & Juul, A.
Affiliations
University of Copenhagen (DK)
Corresponding author
Hagen, C. P.
ORCID
Venue
Human Reproduction
Publisher
Oxford University Press (OUP)
Published
2010-10-17
Volume
25
Issue
12
Pages
3134-3141
ISSN
  • 0268-1161 (ISSN-L)
  • 1460-2350
DOI
10.1093/humrep/deq291
OpenAlex
W2115784657
Cited by
114
References
30
Citations by year
2026: 4 · 2025: 4 · 2024: 6 · 2023: 10 · 2022: 10 · 2021: 5 · 2020: 10 · 2019: 12 · 2018: 7 · 2017: 5 · 2016: 3 · 2015: 10 · 2014: 6 · 2013: 13 · 2012: 7
FWCI
3.95
Type
journal article
Language
en
Open access
closed
Locations
  • Human Reproduction (publishedVersion)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (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 › Ovarian function and disorders
Keywords
Turner syndrome, 45,X karyotype, inhibin B, estradiol, follicle-stimulating hormone, luteinizing hormone, gonadotropins, ovarian function, spontaneous puberty, ovarian failure, pituitary-gonadal axis, adolescence
MeSH terms
Adolescent, Child, Child, Preschool, Estradiol, Female, Follicle Stimulating Hormone, Humans, Inhibins, Karyotyping, Luteinizing Hormone, Longitudinal Studies, Ovarian Diseases, Puberty, Reference Values, Turner Syndrome

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