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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HRT is important for continuing bone mass accrual to reach peak bone mass during the third decade and for further uterine growth and development.
“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]
The deleterious role of hypogonadism on LFA has been emphasized in two review articles.
“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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Rosenfield, R. L., Perovic, N., Devine, N. A., Mauras, N., Moshang, T., Root, A. W., & Sy, J. P. (1998) · PEDIATRICS · doi:10.1542/peds.102.s3.486 · Cited by 48 · see citing works
Cleemann, L., Holm, K., Kobbernagel, H., Kristensen, B., Skouby, S. O., Jensen, A. K., & Gravholt, C. H. (2017) · European Journal of Endocrinology · doi:10.1530/eje-16-0582 · Cited by 48 · see citing works
Sexual function in women with Turner syndrome
Sheaffer, A. T., Lange, E., & Bondy, C. A. (2008) · Journal of Women s Health · doi:10.1089/jwh.2007.0488 · Cited by 45 · see citing works
Cleemann, L. H., Holm, K., Fallentin, E., Skouby, S. O., Smedegaard, H., Møller, N. K., Borch‐Christensen, H., Jeppesen, E. M., Wieslander, S. B., Andersson, A., et al. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.03995.x · Cited by 44 · see citing works
Pubertal development profile in patients with Turner syndrome
Negreiros, L. P. D. S., Rodrigues, E. B., & Guimarães, M. M. (2014) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2013-0256 · Cited by 43 · see citing works
Gravholt, C. H. (2002) · Human Reproduction · doi:10.1093/humrep/17.8.2049 · Cited by 42 · see citing works
Self-citationBiochemical liver abnormalities in Turnerʼs syndrome
Albareda, M., Gallego, A., Enríquez, J., Rodrı́guez-Espinosa, J., & Webb, S. M. (1999) · European Journal of Gastroenterology & Hepatology · doi:10.1097/00042737-199909000-00015 · Cited by 40 · see citing works
Rosenfield, R. L., Bordini, B., & Yu, C. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2722 · Cited by 34 · see citing works
Rosenfield, R. L., Bordini, B., & Yu, C. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-4136 · Cited by 34 · see citing works
Rosenfield, R. L., Fang, V. S., Dupon, C., Kim, M. H., & Refetoff, S. (1973) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-37-4-574 · Cited by 33 · see citing works
A 6‐year Follow‐up survey of health status in middle‐aged women with Turner syndrome
Fjermestad, K. W., Næss, E. E., Bahr, D., & Gravholt, C. H. (2016) · Clinical Endocrinology · doi:10.1111/cen.13068 · Cited by 33 · see citing works
Sheanon, N. M., & Backeljauw, P. F. (2015) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-015-0013-3 · Cited by 31 · see citing works
Elsedfy, H. H., Hamza, R. T., Farghaly, M. H., & Ghazy, M. S. (2012) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2012-0040 · Cited by 29 · see citing works
Gussinyé, M., Terrades, P., Yeste, D., Vicens-Calvet, E., & Carrascosa, A. (2000) · Hormone Research in Paediatrics · doi:10.1159/000053246 · Cited by 24 · see citing works
de Figueiredo Alves, S. T., Gallichio, C. T., & Guimarães, M. M. (2006) · Gynecological Endocrinology · doi:10.1080/08916930600929586 · Cited by 24 · see citing works
Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome
Freriks, K., Sas, T. C. J., Traas, M. A. F., Netea-Maier, R. T., den Heijer, M., Hermus, A. R. M. M., Wit, J. M., van Alfen-van der Velden, J. A. E. M., Otten, B. J., de Muinck Keizer-Schrama, S. M. P. F., et al. (2013) · European Journal of Endocrinology · doi:10.1530/eje-12-0404 · Cited by 24 · see citing works
Self-citationWeight gain in Turner syndrome: association to puberty induction?—longitudinal analysis of KIGS data
Reinehr, T., Lindberg, A., Toschke, C., Cara, J., Chrysis, D., & Camacho‐Hübner, C. (2016) · Clinical Endocrinology · doi:10.1111/cen.13044 · Cited by 21 · see citing works
The influence of GH treatment on glucose homeostasis in girls with Turner Syndrome: a 7 years study
Baronio, F., Mazzanti, L., Girtler, Y., Tamburrino, F., Lupi, F., Longhi, S., Fanolla, A., & Radetti, G. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-3179 · Cited by 20 · see citing works
Perry, R., Gault, E. J., Paterson, W. F., Dunger, D. B., & Donaldson, M. (2014) · Hormone Research in Paediatrics · doi:10.1159/000356924 · Cited by 17 · see citing works
Turner syndrome patients’ ultrasound profile
Rodrigues, E. B., Braga, J. R. D. S., Gama, M. D. P., & Guimarães, M. M. (2013) · Gynecological Endocrinology · doi:10.3109/09513590.2013.797391 · Cited by 14 · see citing works
Çakır, E. D. P., Sağlam, H., Eren, E., Özgür, T., & Tarım, Ö. (2015) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2014-0007 · Cited by 13 · see citing works
Næraa, R. W., Gravholt, C. H., Kastrup, K. W., Svenstrup, B., & Christiansen, J. (2001) · Acta Paediatrica · doi:10.1111/j.1651-2227.2001.tb00793.x · Cited by 13 · see citing works
Rosenfield, R. L., DiMeglio, L. A., Mauras, N., ROSS, J. L., Shaw, N. D., Greeley, S. A. W., Haymond, M. W., Rubin, K., & Rhodes, E. T. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3845 · Cited by 8 · see citing works
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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 1,219 · see citing works
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 407 · see citing works
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 · see citing works
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 · see citing works
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies
Green, T., Flash, S., & Reiss, A. L. (2018) · Neuropsychopharmacology · doi:10.1038/s41386-018-0153-2 · Cited by 167 · see citing works
Normal and Premature Adrenarche
Rosenfield, R. L. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab009 · Cited by 163 · see citing works
The changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149 · see citing works
Stuenkel, C. A., & Gompel, A. (2023) · New England Journal of Medicine · doi:10.1056/nejmcp2116488 · Cited by 141 · see citing works
Lonardo, A., Mantovani, A., Lugari, S., & Targher, G. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20112841 · Cited by 117 · see citing works
“Hypogonadism in women is treated with estrogen replacement through a variety of strategies spanning from treatment with low-dose transdermal E2, oral micronized E2, or per the intramuscular route; after progestin is added, a pill containing both an estrogen and a progestin may be preferable owing to the ease of its us…”
BackgroundNordenström, A., Ahmed, S. F., van den Akker, E., Blair, J., Bonomi, M., Brachet, C., Broersen, L. H. A., Claahsen-van der Grinten, H. L., Dessens, A. B., Gawlik, A., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-22-0073 · Cited by 108 · see citing works
Meng, Q., Ma, M.-H., Zhang, W., Bi, Y., Cheng, P., Yu, X., Fu, Y., Chao, Y., Ji, T., Li, J., et al. (2021) · Gut Microbes · doi:10.1080/19490976.2021.1880220 · Cited by 80 · see citing works
“Despite existing side effects, estrogen supplementation is still the main method for treating perimenopausal syndrome.(32,33) Perimenopausal supplementation of estrogen can improve lipid metabolism(34) and inhibit AS progression .”
MethodMenopausal hormone therapy and breast cancer risk
Rozenberg, S., Pietrantonio, V. D., Vandromme, J., & Gilles, C. (2021) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2021.101577 · Cited by 74 · see citing works
Clinical Indications for Growth Hormone Therapy
Danowitz, M., & Grimberg, A. (2022) · Advances in Pediatrics · doi:10.1016/j.yapd.2022.03.005 · Cited by 72 · see citing works
Seppä, S., Kuiri‐Hänninen, T., Holopainen, E., & Voutilainen, R. (2021) · European Journal of Endocrinology · doi:10.1530/eje-20-1487 · Cited by 78 · see citing works
Lin, A. E., Prakash, S. K., Andersen, N. H., Viuff, M. H., Levitsky, L. L., Rivera‐Davila, M., Crenshaw, M. L., Hansen, L., Colvin, M. K., Hayes, F. J., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61310 · Cited by 50 · see citing works
“In Europe, several 2 mg containing E2 formulations are also available (Klein et al., 2018), combined with a progestin.”
BackgroundMethodInfluentialSelf-citationFiot, E., Alauze, B., Donadille, B., Samara‐Boustani, D., Houang, M., FILIPPO, G. D., Bachelot, A., Delcour, C., Beyler, C., Bois, E., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02423-5 · Cited by 49 · see citing works
Viuff, M. H., Just, J., Brun, S., Dam, T. V., Hansen, M., Melgaard, L., Hougaard, D. M., Lappe, M., & Gravholt, C. H. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac167 · Cited by 35 · see citing works
Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism
Jayasena, C. N., Devine, K., Barber, K., Comninos, A. N., Conway, G. S., Crown, A. L., Davies, M. C., Ewart, A., Seal, L., Smyth, A., et al. (2024) · Clinical Endocrinology · doi:10.1111/cen.15097 · Cited by 39 · see citing works
“122 Current data suggest estrogen replacement is safe for the vast majority of women with TS.”
InfluentialViuff, M., & Gravholt, C. H. (2022) · Annales d Endocrinologie · doi:10.1016/j.ando.2022.06.001 · Cited by 36 · see citing works
Diagnostic and therapeutic use of oral micronized progesterone in endocrinology
Memi, E., Pavli, P., Papagianni, M., Vrachnis, N., & Mastorakos, G. P. (2024) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-024-09882-0 · Cited by 38 · see citing works
“Regimens of estrogen plus progesterone or progestins are cyclic combining an estrogen and progesterone or a progestin (for 10 to 14 days) [62 ].”
BackgroundViuff, M. H., Stochholm, K., Grønbæk, H., Berglund, A., Juul, S., & Gravholt, C. H. (2021) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.16277 · Cited by 30 · see citing works
Non-alcoholic fatty liver disease across endocrinopathies: Interaction with sex hormones
Arefhosseini, S., Ebrahimi‐Mameghani, M., Najafipour, F., & Tutunchi, H. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1032361 · Cited by 30 · see citing works
Review of Hormone Replacement Therapy in Girls and Adolescents with Hypogonadism
Klein, K. O., & Phillips, S. A. (2019) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2019.04.010 · Cited by 27 · see citing works
Delayed and Precocious Puberty: Genetic Underpinnings and Treatments
Gohil, A., & Eugster, E. A. (2020) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2020.08.002 · Cited by 21 · see citing works
Novel insights in Turner syndrome
Aly, J. M., & Kruszka, P. S. (2022) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000001135 · Cited by 21 · see citing works
“Most commonly, low-dose estrogen therapy via estradiol patch is initiated between ages 11 and 12 years tomitigate fusion of epiphyseal growth plate [84].”
BackgroundChallenges Waiting for an Adult with DSD
Nowotny, H. F., & Reisch, N. (2022) · Hormone Research in Paediatrics · doi:10.1159/000527433 · Cited by 22 · see citing works
Puberty in the Female and Its Disorders
Rosenfield, R. L., Cooke, D. W., & Radovick, S. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00016-6 · Cited by 22 · see citing works
Mauras, N., Torres‐Santiago, L., Santen, R., Mericq, V., Ross, J., Colon‐Otero, G., Damaso, L., Hossain, J., Wang, Q., Mesaros, C., et al. (2019) · Clinical Endocrinology · doi:10.1111/cen.13869 · Cited by 19 · see citing works
Self-citationEstradiol matrix patches for pubertal induction: stability of cut pieces at different temperatures
Ankarberg‐Lindgren, C., Gawlik, A., Kriström, B., Mazzanti, L., Ruijgrok, E. J., & Sas, T. (2019) · Endocrine Connections · doi:10.1530/ec-19-0025 · Cited by 20 · see citing works
Roberts, S. A., & Carswell, J. M. (2021) · Andrology · doi:10.1111/andr.13034 · Cited by 20 · see citing works
Cleemann, L., Holm, K., Fallentin, E., Møller, N., Kristensen, B., Skouby, S. O., Leth-Esbensen, P., Jeppesen, E. M., Jensen, A. K., & Gravholt, C. H. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz061 · Cited by 18 · see citing works
MANAGEMENT OF ENDOCRINE DISEASE: transition of care for young adult patients with Turner syndrome
Bernard, V., Donadille, B., Le Poulennec, T., Nedelcu, M., Martinerie, L., & Christin-Maitre, S. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0238 · Cited by 18 · see citing works
Approach to the Patient With New-Onset Secondary Amenorrhea: Is This Primary Ovarian Insufficiency?
Stuenkel, C. A., Gompel, A., Davis, S. R., Pinkerton, J. V., Lumsden, M. A., & Santen, R. J. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab766 · Cited by 19 · see citing works
Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axis
Rogol, A. D. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31782 · Cited by 16 · see citing works
“The lifelong care of these girls and women often depends directly on these other comorbidities, especially after short stature and pubertal delay are addressed during infancy, childhood and adolescence (Gravholt et al., 2017; Kline et al., 2018).”
BackgroundReproductive health in Turner’s syndrome: from puberty to pregnancy
Porcu, E., Cipriani, L., & Damiano, G. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1269009 · Cited by 17 · see citing works
“Estrogen doses increase at 6-month intervals and can mimic the normal pubertal period (25).”
BackgroundReproductive health in Turner syndrome: A narrative review
Whigham, C., Vollenhoven, B. J., & Vincent, A. J. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6261 · Cited by 18 · see citing works
“HRT regime; however, the latest evidence suggests that a transdermal estrogen patch is effective for pubertal induction.(5) Caution must be exercised when choosing a route of administration, considering co‐morbidities.”
BackgroundGrowth Hormone Treatment to Final Height in Turner Syndrome: Systematic Review
Aversa, T., Pomi, A. L., Pepe, G., Corica, D., Messina, M. F., Coco, R., Sippelli, F., Ferraloro, C., Luppino, G., Valenzise, M., et al. (2023) · Clinical Therapeutics · doi:10.1016/j.clinthera.2023.12.004 · Cited by 15 · see citing works
Liver abnormalities in Turner syndrome: the importance of estrogen replacement
Fedor, I., Zold, E., & Barta, Z. (2022) · Journal of the Endocrine Society · doi:10.1210/jendso/bvac124 · Cited by 16 · see citing works
“More studies reported improvement in cholestatic laboratory values and mild improvement in transaminases in TS, after the initiation of ERT [5, 6].”
BackgroundInfluentialHigh Estrogen States in Hereditary Angioedema: a Spectrum
Kulkarni, M., Travers, J. B., & Rohan, C. A. (2021) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-021-08863-4 · Cited by 15 · see citing works
Less ready for adulthood?—Turner syndrome has an impact on transition readiness
Culen, C., Herle, M., Ertl, D., Fröhlich‐Reiterer, E., Blümel, P., Wagner, G., & Häusler, G. (2020) · Clinical Endocrinology · doi:10.1111/cen.14293 · Cited by 13 · see citing works
Szybiak, W., Kujawa, B., Miedziaszczyk, M., & Łącka, K. (2023) · Pharmaceuticals · doi:10.3390/ph16091320 · Cited by 13 · see citing works
“processing among teenagers, but there was no improvement in these areas among adults with TS receiving ERT [53].”
BackgroundMosaic Turner Syndrome Presenting with a 46,XY Karyotype
Rasouli, M. A., McDaniel, K. E., Awadalla, M. S., & Chung, K. (2019) · Case Reports in Obstetrics and Gynecology · doi:10.1155/2019/3719178 · Cited by 13 · see citing works
“Progestin can be administered orally in a cyclic pattern with E 2 , orally continuously with E 2 , or in the form of a progestin containing intrauterine device [8].”
Maione, L., Pala, G., Bouvattier, C. M., Trabado, S., Papadakis, G. E., Chanson, P., Bouligand, J., Pitteloud, N., Dwyer, A. A., Maghnie, M., et al. (2019) · European Journal of Endocrinology · doi:10.1530/eje-19-0537 · Cited by 13 · see citing works
Reversal Learning Performance in the XY∗ Mouse Model of Klinefelter and Turner Syndromes
Aarde, S. M., Hrncir, H., Arnold, A. P., & Jentsch, D. (2019) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2019.00201 · Cited by 12 · see citing works
Dowlut-McElroy, T., & Shankar, R. K. (2022) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2022.02.002 · Cited by 11 · see citing works
Disorders of Puberty: Pharmacotherapeutic Strategies for Management
Zacharin, M. (2019) · Handbook of experimental pharmacology · doi:10.1007/164_2019_208 · Cited by 11 · see citing works
Distinct waves of ovarian follicles contribute to mouse oocyte production
Yin, Q., & Spradling, A. C. (2025) · eLife · doi:10.1101/2024.05.30.596686 · Cited by 10 · see citing works
“Consistent with hormonal disruption, hormone replacement therapy significantly improves the development of individuals with Turner syndrome ( Klein et al., 2018 ).”
Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism
Dowlut‐McElroy, T., Vilchez, D., Taboada, E. M., & Strickland, J. L. (2019) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2019.06.008 · Cited by 10 · see citing works
Xia, J., Liu, F., Wu, J., Xia, Y., Zhao, Z., Zhao, Y., Ren, H., & Kong, X. (2020) · Endocrine Practice · doi:10.4158/ep-2020-0478 · Cited by 10 · see citing works
Clemente, E. G., Penukonda, S. K., Doan, T., Sullivan, B. A., & Kanungo, S. (2022) · Endocrines · doi:10.3390/endocrines3020022 · Cited by 9 · see citing works
MicroRNA-126-3p/5p and Aortic Stiffness in Patients with Turner Syndrome
Abu‐Halima, M., Oberhoffer, F. S., Wagner, V., Rahman, M. A. E., Jung, A., Zemlin, M., Rohrer, T. R., Meese, E. U., & Abdul‐Khaliq, H. (2022) · Children · doi:10.3390/children9081109 · Cited by 9 · see citing works
“As TS is closely linked to estrogen deficiency, due to ovarian failure, and endothelial dysfunction, further studies are required to evaluate the impact of miR-126-3p/5p on TS health [40,41].”
BackgroundHypogonadism in adolescent girls: treatment and long-term effects.
Voutsadaki, K., Matalliotakis, M., & Ladomenou, F. (2022) · Acta bio-medica dell'Ateneo parmense/Acta biomedica · doi:10.23750/abm.v93i5.13719 · Cited by 13 · see citing works
Hasegawa, Y., Hasegawa, T., Satoh, M., Ikegawa, K., Itonaga, T., Mitani‐Konno, M., & Kawai, M. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1051695 · Cited by 9 · see citing works
Puberty in individuals with a disorder of sex development
Nordenström, A. (2020) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2020.05.004 · Cited by 9 · see citing works
Management of congenital hypogonadotropic hypogonadism in females
Naseem, H. S., Lokman, M., & Fitzgerald, C. T. (2021) · Human Fertility · doi:10.1080/14647273.2021.1998929 · Cited by 9 · see citing works
“However, more recent evidence in other congenital hypo-gonadal conditions such as Turner ’ s syndrome shows that low dose oestrogen started earlier at age 11 is used to achieve optimal uterine development (Klein et al., 2018).”
BackgroundBourcigaux, N., Dubost, E., Buzzi, J.-C., Donadille, B., Corpechot, C., Poujol-Robert, A., & Christin-Maitre, S. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad108 · Cited by 8 · see citing works
Oestrogen treatment restores dentate gyrus development in premature newborns by IGF1 regulation
Sharma, D. R., Cheng, B., Sahu, R., Zhang, X., Mehdizadeh, R., Singh, D., Iacobaş, D. A., & Ballabh, P. (2023) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17816 · Cited by 8 · see citing works
Iron overload disorders: Growth and gonadal dysfunction in childhood and adolescence
Tenuta, M., Cangiano, B., Rastrelli, G., Carlomagno, F., Sciarra, F., Sansone, A., Isidori, A. M., Gianfrilli, D., & Krausz, C. G. (2024) · Pediatric Blood & Cancer · doi:10.1002/pbc.30995 · Cited by 8 · see citing works
Approach to the Patient With Turner Syndrome
Turner, H. E., Johannsen, E. B., Smyth, A., Orchard, E., & Gravholt, C. H. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf517 · Cited by 11 · see citing works
Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery
Moshirfar, M., Parsons, M. T., Lau, C.-K., Chartrand, N., Ronquillo, Y. C., & Hoopes, P. C. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11226853 · Cited by 7 · see citing works
Arnold, L., Bacova, M., Dalla-Pozza, R., Haas, N. A., & Oberhoffer, F. S. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm11010167 · Cited by 6 · see citing works
Passone, C. D. G. B., Aragão, L. F. F., Franco, R. R., Leite, J. E. S., Gonzalez, M. A. B., Schil, P. S. D. A., Ybarra, M., Damiani, D., Kerkhof, G. F., Montenegro, R. M., et al. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1403470 · Cited by 6 · see citing works
Gonadal dysgenesis: a clinical overview of Turner syndrome
Clemente, E. G., Maravolo, P. V., & Tanager, C. L. (2019) · Pediatric Medicine · doi:10.21037/pm.2019.06.10 · Cited by 6 · see citing works
Adolescent brain development in girls with Turner syndrome
Wun, V. L., Foland‐Ross, L. C., Jo, B., Green, T., Hong, D. S., ROSS, J. L., & Reiss, A. L. (2023) · Human Brain Mapping · doi:10.1002/hbm.26327 · Cited by 7 · see citing works
“…most individuals with TS require estrogen replacement therapy in order to induce puberty, maintain secondary sex characteristics (e.g., breasts, menstrual cycle, increased body fat), achieve peak bone mass, and normalize uterine growth for possible pregnancy later in life (Klein et al., 2018).”
BackgroundCardiovascular Complications in Patients with Turner’s Syndrome
Kostopoulou, E., Bosdou, J. Κ., Anagnostis, P. G., Stevenson, J. C., & Goulis, D. G. (2020) · Current Pharmaceutical Design · doi:10.2174/1381612826666200531152459 · Cited by 6 · see citing works
Pubertal induction in girls with Turner Syndrome
Aversa, T., CORICA, D., Pepe, G., PAJNO, G. B., Valenzise, M., MESSINA, M. F., & WASNIEWSKA, M. (2022) · Minerva Endocrinology · doi:10.23736/s2724-6507.20.03285-x · Cited by 6 · see citing works
Patel, N., Davis, S., & Nahata, L. (2021) · Endocrine Practice · doi:10.4158/ep-2020-0287 · Cited by 4 · see citing works
Mathez, A. L. G., Monteagudo, P. T., do Nascimento Verreschi, I. T., & Dias-da-Silva, M. R. (2020) · Scientific Reports · doi:10.1038/s41598-020-64992-4 · Cited by 5 · see citing works
Backeljauw, P. F., Chernausek, S. D., Gravholt, C. H., & Kruszka, P. S. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00017-8 · Cited by 5 · see citing works
Witkowska-Krawczak, E., Erazmus, M., Majcher, A., Pyrżak, B., & Kucharská, A. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1173419 · Cited by 5 · see citing works
Hattori, S., Park, S., Park, J., & Omi, N. (2020) · Physical Activity and Nutrition · doi:10.20463/pan.2020.0024 · Cited by 5 · see citing works
COVID-19 Pandemic: Mental Health in Girls With and Without Fragile X Syndrome
Jordan, T. L., Bartholomay, K. L., Lee, C. H.-Y., Miller, J. G., Lightbody, A. A., & Reiss, A. L. (2021) · Journal of Pediatric Psychology · doi:10.1093/jpepsy/jsab106 · Cited by 6 · see citing works
“Although there is a growing body of literature describing children’s responses to trauma, disasters, and adverse events in general, investigations of children’s responses to pandemics in particular remain relatively sparse (Klein et al., 2018).”
BackgroundManagement of a Girl With Delayed Puberty and Elevated Gonadotropins
McGlacken-Byrne, S. M., Achermann, J. C., & Conway, G. S. (2022) · Journal of the Endocrine Society · doi:10.1210/jendso/bvac108 · Cited by 6 · see citing works
“There are several pubertal induction regimens that vary by country [82-85].”
BackgroundHypogonadism in male and female: which is the best treatment?
BERTELLI, E., FRENNA, M. D., Cappa, M., SALERNO, M., WASNIEWSKA, M., BIZZARRI, C., & SANCTIS, L. D. (2021) · Minerva Pediatrics · doi:10.23736/s2724-5276.21.06534-4 · Cited by 7 · see citing works
Burt, E., Yasmin, E., Davies, M. C., Creighton, S. M., Brain, C. E., Ruff, C. F., Learner, H. I., Williams, L., Cameron‐Pimblett, A., Talaulikar, V. S., et al. (2022) · Clinical Endocrinology · doi:10.1111/cen.14740 · Cited by 5 · see citing works
“In the context of pubertal induction, studies have demonstrated development to Tanner stage 4 after an average of 2 years of treatment.(3,6,8) In our study it is apparent that the breast develops at a slower pace than the uterus during the initial phase of exogenous oestrogen treatment and change in breast volume did…”
BackgroundIdkowiak, J., Smyth, A., Mundy, L. R., Wanaguru, A., Gleeson, H. K., & Högler, W. (2022) · Clinical Endocrinology · doi:10.1111/cen.14755 · Cited by 4 · see citing works
Distinct waves of ovarian follicles contribute to mouse oocyte productionPreprint
Yin, Q., & Spradling, A. C. (2025) · eLife · doi:10.7554/elife.107352 · Cited by 6 · see citing works
Kim, J., Kim, M.-S., Suh, B., Ko, C. W., Lee, K., Yoo, H., Shin, C. H., Hwang, J. S., Kim, H.-S., Chung, W. Y., et al. (2021) · BMC Endocrine Disorders · doi:10.1186/s12902-021-00904-5 · Cited by 5 · see citing works
“estrogen treatment should began at 11 or 12 years of age in girls with high gonadotropin or low anti-Mullerian hormone [7, 31].”
BackgroundLifelong medical challenges and immunogenetics of Turner syndrome
Cho, W. K. (2024) · Korean Journal of Pediatrics · doi:10.3345/cep.2024.00430 · Cited by 5 · see citing works
“59) A 59-61 ) HRT initiation should be customized to each patient Infertility is prevalent in TS, and fertility and family planning are becoming increasingly important concerns.”
BackgroundEvolution of Health Care in Turner Syndrome
Shankar, R. K., Gravholt, C. H., & Backeljauw, P. F. (2024) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32124 · Cited by 4 · see citing works
“In the past two decades, there is improved understanding of the prevalence of spontaneous thelarche and menarche in TS, and the neuropsychological, bone health and metabolic consequences of untreated estrogen deficiency in early adolescence (Klein et al. 2018).”
Intersex Bodies, Language, and Medical Authority
Civitello, A. D. (2022) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190212926.013.75 · Cited by 4 · see citing works
Villasmil, M. G. P., Ryckman, K. K., Norris, A. W., & Pinnaro, C. T. (2023) · Hormone Research in Paediatrics · doi:10.1159/000534371 · Cited by 4 · see citing works
“Hypergonadotropic hypogonadism, which is expected in individuals with TS [53], necessitates treatment with estrogen beginning at age 11 – 12 [18].”
Amirkashani, D., Rohani, F., Khodadost, M., Hoseini, R., Alidoost, H., & Madani, S. (2022) · BMC Pediatrics · doi:10.1186/s12887-022-03406-y · Cited by 4 · see citing works
“According to the international Turner Syndrome guidelines, it is recommended to initiate estrogen therapy when patients are between 11 and 12 years of age, and then gradually increasing the external estrogen to adult dosage over 2 to 3 years [17].”
MethodGravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-815234-8.00002-1 · Cited by 4 · see citing works
The effects of estrogen induction therapy on pubertal presentations in turner syndrome patients
Lee, Y., Huang, C., Lin, C., Cheng, B.-W., Huang, S.-K., Yeh, S.-N., Lee, Y., & Ting, W. (2022) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2022.05.014 · Cited by 3 · see citing works
Howarth, S., & Quinton, R. (2022) · BMJ Case Reports · doi:10.1136/bcr-2022-250870 · Cited by 3 · see citing works
Januskaite, P., Goyanes, Á., Orlu, M., & Basit, A. W. (2025) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2025.114798 · Cited by 3 · see citing works
Aportes al estudio de las relaciones entre memoria episódica y teoría de la mente
Aguilar, M. J., Agulla, L., Said, A., & López, M. (2020) · Interdisciplinaria Revista de Psicología y Ciencias Afines · doi:10.16888/interd.2020.37.1.11 · Cited by 3 · see citing works
Skeletal Characteristics of Children and Adolescents with Turner Syndrome
Kawai, M., & Hasegawa, Y. (2022) · Endocrines · doi:10.3390/endocrines3030038 · Cited by 4 · see citing works
“These findings indicate that aBMD is decreased in adults with TS, which is partly attributable to insufficient ERT, as evidenced in multiple observational studies and metaanalyses [8,9].”
ResultBrander, E. P. A., Keenahan, L. A., Sangi‐Haghpeykar, H., Graham, M. E., & Dietrich, J. E. (2023) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2023.03.007 · Cited by 3 · see citing works
Blanchett, R., Chen, H., Vlasova, R., Cornea, E. A., Maza, M. T., Davenport, M. L., Reinhartsen, D. B., DeRamus, M., Pretzel, R. E., Gilmore, J. H., et al. (2024) · Cerebral Cortex · doi:10.1093/cercor/bhae351 · Cited by 2 · see citing works
“If these differences do arise later in childhood, they could reflect postnatal deficiency in gonadal steroid hormones (Rubin et al. 1981; Schulz and Sisk 2016; Klein et al. 2018).”
BackgroundReich, J. A., Murthy, D. B., Coble, C., & Shah, B. C. (2024) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2024-0187 · Cited by 2 · see citing works
Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved
Lam, J., Stoppa‐Vaucher, S., Αντωνίου, Μ., Bouthors, T., Arana, I. L. R., Sekarski, N., Rutz, T., Fries, S., Binz, P., Niel, F., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1190670 · Cited by 3 · see citing works
Caracterización de una cohorte de pacientes pediátricas con Síndrome de Turner
Guzmán-Arias, E. C., Grajales-Restrepo, D. A., Zuluaga, N. A., Lopera-Cañaveral, M. V., & Niño-Serna, L. F. (2023) · Andes pediatrica · doi:10.32641/andespediatr.v94i5.4617 · Cited by 2 · see citing works
“El diagnóstico temprano de esta entidad ayuda a un adecuado manejo de las comorbilidades, además de lograr una talla más cercana a lo normal con el uso de hormona de crecimiento y el inicio oportuno de la inducción puberal 7,9,10 .”
BackgroundGrowth During Pubertal Induction in Girls With Turner Syndrome: A Retrospective Cohort Analysis
Nicholls, J., Harris, M. A., Hughes, I. P., Huynh, T., & McMahon, S. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae071 · Cited by 2 · see citing works
Distinct waves of ovarian follicles contribute to mouse oocyte productionPreprint
Yin, Q., & Spradling, A. C. (2025) · eLife · doi:10.7554/elife.107352.1 · Cited by 1 · see citing works
Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience
Robeva, R. N., Elenkova, A. P., & Zacharieva, S. (2023) · Clinical and Experimental Obstetrics & Gynecology · doi:10.31083/j.ceog5001022 · Cited by 1 · see citing works
Transition from pediatrics to adult health care in girls with turner syndrome
Sabbadin, C., Marin, L., Manso, J., Mozzato, C., Camozzi, V., Andrisani, A., Sacchetti, C., Mian, C., Scaroni, C. M., Guazzarotti, L., et al. (2024) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2024.2347265 · Cited by 1 · see citing works
“TS is often accompanied by difficulties in achieving successful pregnancies due to a severe reduction of ovarian reserve with POI [76,77], and cardiac or cardiovascular issues related to TS can further complicate the pregnancy (hypertension, diabetes, cardiac malformations [2,36,78,79].”
BackgroundMethodInfluentialGender-Diverse Youth with Turner Syndrome: Special Management Considerations
Eitel, K. B., Zenno, A., Blasi, C. C. D., Fechner, P. Y., & Hodax, J. K. (2024) · JCEM Case Reports · doi:10.1210/jcemcr/luae076 · Cited by 1 · see citing works
Zhi, H., Xu, C., Yan, H., Liu, C., & Liu, L. (2025) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2025.1527887 · Cited by 1 · see citing works
“This condition is seen in most patients with TS and may occur at birth or gradually during childhood, adolescence, or early adulthood (18, 19).”
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › 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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