Characterization of spontaneous and induced puberty in girls with Turner syndrome
Open accessAbstract
Objective To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients.Methods Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed.Results Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (P<.01) and were more likely to have mosaic TS (P = .02).Conclusion Significant variability in the timing of menarche exists among girls with TS. However, age at pubertal induction and karyotype were significantly correlated with age at menarche in our patients. A wide range of estrogen doses is seen in girls who bleed prior to progesterone, suggesting extreme variability in estrogen sensitivity among patients with TS. Girls achieving spontaneous menarche are younger and more likely to have a mosaic karyotype than those with induced menarche. Large-scale prospective studies are needed to confirm these results.Abbreviations BMI = body mass index; HRT = hormone replacement therapy; TS = Turner syndrome.
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A higher frequency of primary amenorrhea is more common in individuals with 45,X than in those with 45,X/46,XX.
“A higher frequency of primary amenorrhea is more common in individuals with 45,X than compared to those with 45,X/46,XX.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [276]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Folsom, L. J., Slaven, J. E., Nabhan, Z. M., & Eugster, E. A.
- Affiliations
- Riley Hospital for Children (US)
- Indiana University Indianapolis (US)
- Corresponding author
- Folsom, Lisal J.
- Venue
- Endocrine Practice
- Publisher
- Elsevier BV
- Published
- 2017-07
- Volume
- 23
- Issue
- 7
- Pages
- 768-774
- ISSN
- 1530-891X (ISSN-L)
- PMC
- PMC5808458
- OpenAlex
- W2599216318
- Cited by
- 15
- References
- 17
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 1 · 2022: 5 · 2020: 2 · 2019: 3 · 2018: 1
- FWCI
- 1.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Endocrine Practice (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- PMC
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (T32DK065549)
- 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, puberty, menarche timing, spontaneous puberty, hormone replacement therapy, estrogen therapy, karyotype, mosaic Turner syndrome, estrogen sensitivity, transdermal estrogen, oral estrogen
- MeSH terms
- Administration, Cutaneous, Administration, Oral, Adolescent, Age Factors, Child, Estrogens, Female, Humans, Menarche, Mosaicism, Progestins, Progesterone, Puberty, Retrospective Studies, Turner Syndrome, Estrogen Replacement Therapy, Body Mass Index, Hormone Replacement Therapy, Young Adult
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