The care of adolescents and young adults with Turner syndrome: a pediatric and adolescent gynecology perspective
Open accessAbstract
Turner syndrome (TS) is caused by the absence of a part or whole X chromosome in a phenotypic female and has an estimated prevalence of 25-50/100,000 live-born females. The primary gynecologic manifestation of TS is primary ovarian insufficiency (POI), and the resulting hypoestrogenism and infertility are experienced by most individuals with TS. In this review, we summarize the recommendations for the care of adolescents and young adults with TS, with a focus on primary ovarian insufficiency in TS, hormone replacement therapy, fertility preservation, and pregnancy in TS.
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There are no standardized approaches to referral for fertility preservation among pediatric providers, beyond referring only those who have spontaneous puberty.
“Because timing of follicular atresia for any individual is difficult to predict, there are no standardized approaches to referral for fertility preservation among pediatric providers, beyond referring only those who have spontaneous puberty.281,575,614”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [281]
Timing of follicular atresia for any individual with TS is difficult to predict.
“Because timing of follicular atresia for any individual is difficult to predict, there are no standardized approaches to referral for fertility preservation among pediatric providers, beyond referring only those who have spontaneous puberty.281,575,614”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [281]
There is limited data on long-term outcomes of fertility preservation for patients with TS.
“Before proceeding with treatment, adult and pediatric clinicians should communicate clearly about the difficulty of anticipating success and limited data on long-term outcomes of fertility preservation for patients with TS, as well as the possible health risks and complications with fertility treatment.281”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [281]
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Yatsenko, S. A., Witchel, S. F., & Gordon, C. M. (2024) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2024.01.009 · Cited by 17 · see citing works
Hillard, P. J. A. (2022) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2022.06.004 · Cited by 14 · see citing works
Unlocking Novel Therapeutic Potential of Angiotensin II Receptor Blockers
Chatzipieris, F. P., Mavromoustakou, K., Matsoukas, J., & Mavromoustakos, T. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26188819 · Cited by 9 · 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
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Cipres, D. T., & Gordon, C. M. (2024) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2024.08.004 · Cited by 4 · see citing works
Vakharia, J. D., & Stanley, T. L. (2022) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000785 · Cited by 3 · see citing works
Öktem, Ö., Kalajahi, H. G., Esmaeilian, Y., Benlioğlu, C., Hela, F., Yusufoğlu, S., Kalkan, Ü., Turan, V., & Ata, B. (2026) · Human Reproduction · doi:10.1093/humrep/deag016 · Cited by 1 · see citing works
Prediction of fertility potential in children and adolescents with Тurner syndrome
Turchinets, A. I., Uvarova, E. V., & Kumykova, Z. K. (2024) · Pediatric and Adolescent Reproductive Health · doi:10.33029/1816-2134-2024-20-1-83-90
Dowlut‐McElroy, T., Hyunh, V. O., Roth, L. W., Ross, M. E., Priebe, A., Maher, J. Y., & Gomez‐Lobo, V. (2025) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2025.09.002
Self-citationFertility preservation in patients with Turner syndrome: a SWOT analysis
Ferro, R., Vento, F. D., & Streuli, I. (2025) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2025.105438
- Authors
- Dowlut-McElroy, T., & Shankar, R. K.
- Affiliations
- Children's National (US)
- Venue
- Journal of Pediatric and Adolescent Gynecology
- Publisher
- Elsevier BV
- Published
- 2022-08
- Volume
- 35
- Issue
- 4
- Pages
- 429-434
- ISSN
- 0932-8610 (ISSN-L)
- 1083-3188
- PMC
- PMC9288983
- OpenAlex
- W4221027687
- Cited by
- 11
- References
- 84
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 1 · 2022: 2
- FWCI
- 0.39
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Pediatric and Adolescent Gynecology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (Z1A HD008985)
- 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 › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Keywords
- Turner syndrome, primary ovarian insufficiency, hormone replacement therapy, fertility preservation, adolescents, young adults, hypogonadism, infertility, X chromosome deletion
- MeSH terms
- Adolescent, Child, Female, Gynecology, Humans, Infertility, Pregnancy, Turner Syndrome, Primary Ovarian Insufficiency, Young Adult, Fertility Preservation
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