The DOI matches its Crossref record; 105 of the 107 references it cites were found in a registry or an index.
Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations
Open accessAbstract
Context: Most girls with Turner syndrome (TS) have hypergonadotropic hypogonadism and need hormonal replacement for induction of puberty and then for maintaining secondary sex characteristics, attaining peak bone mass, and uterine growth. The optimal estrogen replacement regimen is still being studied. Evidence Acquisition: We conducted a systematic search of PubMed for studies related to TS and puberty. Evidence Synthesis: The goals of replacement are to mimic normal timing and progression of physical and social development while minimizing risks. Treatment should begin at age 11 to 12 years, with dose increases over 2 to 3 years. Initiation with low-dose estradiol (E2) is crucial to preserve growth potential. Delaying estrogen replacement may be deleterious to bone and uterine health. For adults who have undergone pubertal development, we suggest transdermal estrogen and oral progestin and discuss other approaches. We discuss linear growth, lipids, liver function, blood pressure, neurocognition, socialization, and bone and uterine health as related to hormonal replacement. Conclusion: Evidence supports the effectiveness of starting pubertal estrogen replacement with low-dose transdermal E2. When transdermal E2 is unavailable or the patient prefers, evidence supports use of oral micronized E2 or an intramuscular preparation. Only when these are unavailable should ethinyl E2 be prescribed. We recommend against the use of conjugated estrogens. Once progestin is added, many women prefer the ease of use of a pill containing both an estrogen and a progestin. The risks and benefits of different types of preparations, with examples, are discussed.
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“During adulthood the aim is to restore the physiological hormonal environment as closely as possible and HRT is important for continuing bone mass accrual to reach peak bone mass during the third decade and for further uterine growth and development.326,327”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [326]
In the citing paper
“The deleterious role of hypogonadism on LFA has been emphasized in two review articles.326,719”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [326]
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ESHRE Guideline: management of women with premature ovarian insufficiency
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Self-citationCare of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005
2016 IMS Recommendations on women’s midlife health and menopause hormone therapy
Baber, R., Panay, N., & Fenton, A. J. (2016) · Climacteric · doi:10.3109/13697137.2015.1129166 · Cited by 968
Treatment of symptoms of the menopause: an Endocrine Society Clinical Practice Guideline
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Self-citationThe 2012 Hormone Therapy Position Statement of The North American Menopause Society
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Contemporary Hormonal Contraception and the Risk of Breast Cancer
Mørch, L. S., Skovlund, C. W., Hannaford, P. C., Iversen, L., Fielding, S., & Lidegaard, Ø. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1700732 · Cited by 640
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“Glucose and insulin The risk of type 1 and type 2 diabetes mellitus is increased in patients with TS across all ages (68).”
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2024 ESC Guidelines for the management of peripheral arterial and aortic diseases
Mazzolai, L., Teixidó‐Turà, G., Lanzi, S., Boc, V., Bossone, E., Brodmann, M., Bura-Rivière, A., Backer, J. F. A. D., Déglise, S., Corte, A. D., et al. (2024) · European Heart Journal · doi:10.1093/eurheartj/ehae179 · Cited by 1,313
Clinical Management of Congenital Hypogonadotropic Hypogonadism
Young, J., Xu, C., Papadakis, G. E., Acierno, J. S., Maione, L., Hietamäki, J., Raivio, T., & Pitteloud, N. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00116 · Cited by 425
Turner syndrome: mechanisms and management
Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies
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Metadata
- Authors
- Klein, K. O., Rosenfield, R. L., Santen, R. J., Gawlik, A. M., Backeljauw, P. F., Gravholt, C. H., Sas, T. C. J., & Mauras, N.
- Affiliations
- University of California San Diego (US)
- University of Chicago (US)
- University of Virginia (US)
- Medical University of Silesia (PL)
- Cincinnati Children's Hospital Medical Center (US)
- Aarhus University Hospital (DK)
- Erasmus MC (NL)
- Nemours Children's Health System (US)
- Corresponding author
- Klein, Karen O
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2018-02-08
- Volume
- 103
- Issue
- 5
- Pages
- 1790-1803
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2792324931
- Cited by
- 151
- References
- 107
- Citations by year
- 2026: 7 · 2025: 18 · 2024: 26 · 2023: 18 · 2022: 30 · 2021: 18 · 2020: 15 · 2019: 16 · 2018: 3
- FWCI
- 1.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Novo Nordisk Fonden (NNF13OC0003234, NNF15OC0016474)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
- Keywords
- Turner syndrome, estrogen replacement therapy, puberty induction, estradiol, transdermal estradiol, micronized estradiol, ethinyl estradiol, progestins, bone health, uterine growth, peak bone mass, linear growth, lipid profile, liver function, blood pressure, neurocognitive function, socialization, conjugated estrogens
- MeSH terms
- Age Factors, Child, Estrogens, Female, Humans, Turner Syndrome, Estrogen Replacement Therapy, Time-to-Treatment
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