Cited by 151Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersEstrogen and related hormone effects

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Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations

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Klein, Karen O, Rosenfield, Robert L, Santen, Richard J, Gawlik, Aneta M, Backeljauw, Philippe F, Gravholt, Claus H, Sas, Theo C J, Mauras, Nelly·2018·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2017-02183

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Abstract

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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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: Klein, Karen O
Rosenfield, Robert L
Santen, Richard J
Gawlik, Aneta M
Backeljauw, Philippe F
Gravholt, Claus H
Sas, Theo C J
Mauras, Nelly
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
DOI: 10.1210/jc.2017-02183
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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Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations

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