Cited by 43Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersOvarian function and disorders

Turner syndrome systematic review: spontaneous thelarche and menarche stratified by karyotype

Dabrowski, Elizabeth, Jensen, Rachel, Johnson, Emilie K., Habiby, Reema L., Brickman, Wendy J., Finlayson, Courtney·2019·Hormone Research in Paediatrics

Abstract

BACKGROUND: Girls with Turner syndrome (TS) have a high incidence of primary ovarian insufficiency. Recent data show rates of spontaneous thelarche (ST) of 38% and spontaneous menarche (SM) of 15-16%, with higher rates in those with mosaicism. SUMMARY: We systematically reviewed the literature for evidence regarding rates of ST and SM in TS and evaluated rates based on the type of chromosomal mosaicism. We searched MEDLINE via PubMed, Embase, and the Cochrane Database of Controlled Trials. Reference lists were screened. Studies reporting outcomes of ST and SM in girls with TS, diagnosed by genetic analysis, were included. Data was collected regarding study design, cohort type, cohort age, the number of participants with ST and SM, the individual age at diagnosis of ST and SM, the mean age of patients with ST and SM, sample size, the number of participants with secondary amenorrhea, and karyotype. Key Messages: In total 2,699 patients were assessed for ST and 2,890 for SM from 43 articles. Overall the rates of ST were 32% (95% CI 26.4-38.9) and SM 20.8% (95% CI 19.3-22.4). Girls with X monosomy had the lowest rates of ST (i.e., 13%; 95% CI 8.7-19.7) and SM (i.e., 9.1%; 95% CI 7.3-11.3). Girls with 45,X/47,XXX had the highest rates of ST (i.e., 88.1%; 95% CI 62-97.1) and SM (i.e., 66.2%; 95% CI 49.3-79.6). CONCLUSIONS: Rates of ST and SM differ by karyotype in TS. When counseling patients, the karyotype should strongly influence discussions regarding pubertal development and the future reproductive potential.

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Crossref · 10.1159/000502902

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Authors
Dabrowski, E., Jensen, R., Johnson, E. K., Habiby, R. L., Brickman, W. J., & Finlayson, C.
Affiliations
  • Lurie Children's Hospital (US)
  • Northwestern University (US)
Venue
Hormone Research in Paediatrics
Publisher
S. Karger AG
Published
2019
Volume
92
Issue
3
Pages
143-149
ISSN
  • 1663-2818 (ISSN-L)
  • 1663-2826
OpenAlex
W3000230525
Cited by
43
References
52
Citations by year
2026: 6 · 2025: 5 · 2024: 7 · 2023: 3 · 2022: 11 · 2021: 7 · 2020: 4
FWCI
0.74
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 › Ovarian function and disorders
Keywords
Turner syndrome, karyotype, chromosomal mosaicism, monosomy X, primary ovarian insufficiency, pubertal development, secondary amenorrhea, fertility
MeSH terms
Adolescent, Amenorrhea, Breast, Child, Female, Humans, Menarche, Mosaicism, Puberty, Turner Syndrome, MEDLINE, Karyotype

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