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Standard of Care: Growth & Hormones

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The standard of care for Turner syndrome includes daily recombinant human growth hormone (rhGH) to maximize adult height and estrogen replacement therapy (ERT) to induce puberty and protect bone health. Early fertility evaluation is also recommended.

Key Takeaways

  • • Recombinant human growth hormone (rhGH) is given as a daily injection to help girls with Turner syndrome reach a typical adult height.
  • • Estrogen replacement therapy (ERT) is usually started between ages 11 and 12 to mimic natural puberty and build healthy bone density.
  • • Transdermal estrogen patches or gels are often preferred over oral pills because they are gentler on the liver.
  • • Pregnancy with Turner syndrome is considered extremely high-risk, requiring a comprehensive cardiovascular evaluation before attempting.
  • • Early consultation with a fertility specialist can help explore options like egg freezing before the ovarian reserve naturally declines.

Managing the physical growth and hormonal development of a girl with Turner syndrome (TS) requires a specialized, proactive approach. Two primary treatments—recombinant human growth hormone (rhGH) and estrogen replacement therapy (ERT)—form the cornerstone of standard care, helping to optimize height, support bone health, and ensure a smooth transition through puberty [1][2].

Recombinant Human Growth Hormone (rhGH)

Because the missing SHOX gene leads to shorter bone growth, most girls with TS will require growth hormone therapy to reach a near-typical adult height [3][1].

  • Goals and Timing: The primary goal is to increase the rate of growth and maximize final height [4]. Experts generally recommend starting rhGH as soon as a girl’s height falls below the 5th percentile on a standard growth chart or when her growth velocity slows significantly [1][5].
  • Administration and Duration: Growth hormone is given as a daily injection [4]. While this can feel daunting at first, many families find that the modern, thin-needle pens make the process manageable. Treatment does not last forever; it typically stops when a girl’s bones finish growing, which is confirmed by an X-ray showing bone age maturity [1].
  • Monitoring: Your endocrinologist will regularly monitor your daughter’s growth, blood markers like IGF-1 (to ensure the dose is safe and effective), and glucose levels [6][4]. While rhGH is generally well-tolerated, doctors will also monitor for specific side effects, such as joint pain or the progression of scoliosis, so that adjustments can be made if necessary [4].

Estrogen Replacement Therapy (ERT)

Most girls with TS experience ovarian insufficiency, meaning their ovaries do not produce enough estrogen to trigger puberty naturally [7]. ERT is used to replace this missing hormone.

  • Puberty Induction: ERT is typically started between ages 11 and 12 [2][8]. The goal is to mimic the natural, slow progression of puberty. Doctors usually start with a very low dose and gradually increase it over 2 to 3 years to allow for healthy breast and uterine development [2][9].
  • Bone Health: Beyond physical appearance, estrogen is critical for building bone mineral density (BMD) [10]. Starting ERT on time is one of the most important ways to prevent osteoporosis (weak, brittle bones) later in life [11][12].
  • Delivery Methods: Many specialists prefer transdermal estrogen (skin patches or gels) over oral pills because it more closely mimics the way the body naturally releases hormones and is gentler on the liver [2][8].

Fertility and the Future

While TS affects the ovaries, it is important to know that most women with TS can lead full lives and, with medical assistance, many become parents.

  • Spontaneous Pregnancy: While rare (occurring in roughly 2% to 5% of cases, primarily in those with mosaicism), spontaneous pregnancy can happen [13][14]. However, it is absolutely critical to know that pregnancy in TS is considered extremely high-risk, particularly for the mother’s heart [13]. Aortic dissection is a leading cause of maternal mortality in TS. A comprehensive cardiovascular evaluation by a cardiologist is strictly required before attempting pregnancy (spontaneous or assisted), as certain aortic dimensions are absolute contraindications for carrying a child [13][14].
  • Preservation Options: For some girls, particularly those with mosaicism or measurable Anti-Müllerian Hormone (AMH) levels, options like freezing eggs (oocyte cryopreservation) or ovarian tissue may be possible [15][16][17]. Early consultation with a fertility specialist is recommended to explore these choices before the ovarian reserve naturally declines [18].

Safety and Quality of Life

A common concern for parents is whether these long-term hormone therapies increase cancer risk. Current evidence suggests that when used at physiological doses (replacing what the body is missing), these treatments do not significantly increase cancer risk [19]. Instead, they dramatically improve quality of life by supporting physical growth, self-esteem, and long-term health [1].

Frequently Asked Questions

When should my daughter start growth hormone therapy for Turner syndrome?
Growth hormone therapy typically begins when a girl's height falls below the 5th percentile on a standard growth chart or when her growth rate slows significantly. Treatment continues until x-rays confirm that the bones have finished growing.
Why is estrogen replacement therapy necessary for Turner syndrome?
Most girls with Turner syndrome have ovarian insufficiency, meaning their bodies don't produce enough natural estrogen. Estrogen therapy is needed to trigger puberty and is critical for building bone mineral density to prevent osteoporosis later in life.
Is it better to use estrogen patches or pills for Turner syndrome?
Many specialists prefer transdermal estrogen, such as skin patches or gels, over oral pills. Transdermal methods more closely mimic how the body naturally releases hormones and are gentler on the liver.
Can women with Turner syndrome get pregnant?
While spontaneous pregnancy is rare, many women with Turner syndrome become parents with medical assistance like egg or ovarian tissue freezing. Because pregnancy carries severe cardiovascular risks for women with TS, a thorough heart evaluation by a cardiologist is strictly required first.

Questions for Your Doctor

  • • Based on my daughter's current height velocity and bone age, is it the right time to start growth hormone therapy?
  • • What is the starting dose for growth hormone, and how will you monitor its effectiveness (e.g., IGF-1 levels)?
  • • For estrogen therapy, do you prefer transdermal (skin patches) or oral medication for my daughter, and why?
  • • When do we plan to introduce progestin to her hormone regimen?
  • • Can we assess her ovarian reserve now (e.g., through an AMH blood test) to discuss fertility preservation options?

Questions for You

  • • Have I noticed any changes in how my daughter's clothes fit or her overall growth compared to friends or siblings?
  • • How does my daughter feel about starting daily injections (for growth hormone) or using skin patches (for estrogen)?
  • • What are our family's priorities regarding future fertility, and do we want to consult a fertility specialist early on?

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References

  1. 1

    Growth and Growth-Promoting Treatments in Turner Syndrome.

    Kanakatti Shankar R, Quigley CA, Isojima T, et al.

    American journal of medical genetics. Part C, Seminars in medical genetics 2025; (199(1)):e32133 doi:10.1002/ajmg.c.32133.

    PMID: 39950365
  2. 2

    Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy.

    Hasegawa Y, Hasegawa T, Satoh M, et al.

    Frontiers in endocrinology 2023; (14()):1051695 doi:10.3389/fendo.2023.1051695.

    PMID: 37056677
  3. 3

    Short stature homeoboxcontaining gene and idiopathic short stature.

    Iughetti L, Appio P, Capone L, et al.

    Expert review of endocrinology & metabolism 2009; (4(3)):241-250 doi:10.1586/eem.09.5.

    PMID: 30743796
  4. 4

    Improvement of Bone Metabolism in Prepubertal Girls with Turner Syndrome Following Long-term Pegylated Growth Hormone Treatment.

    Gao X, Cao B, Chen J, et al.

    Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2025; (57(2)):101-105 doi:10.1055/a-2407-9446.

    PMID: 39393415
  5. 5

    [Analysis of the influencing factors of recombinant human growth hormone effect in the children with Turner syndrome].

    Li J, Wu W, Liang Y, Luo XP

    Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(11)):866-870 doi:10.3760/cma.j.issn.0578-1310.2018.11.014.

    PMID: 30392213
  6. 6

    Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone.

    Cyniak-Magierska A, Lasoń A, Smyczyńska J, Lewiński A

    Neuro endocrinology letters 2015; (36(2)):119-23.

    PMID: 26071578
  7. 7

    Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

    Gawlik A, Hankus M, Such K, et al.

    Journal of pediatric and adolescent gynecology 2016; (29(6)):542-550 doi:10.1016/j.jpag.2016.03.005.

    PMID: 27018757
  8. 8

    Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower-Dose Estradiol Therapy for Healthy Bone Density and Quality.

    Hasegawa Y, Ikegawa K, Munenaga T, et al.

    American journal of medical genetics. Part C, Seminars in medical genetics 2025; (199(2)):107-115 doi:10.1002/ajmg.c.32155.

    PMID: 41121552
  9. 9

    Pubertal induction in girls with Turner Syndrome.

    Aversa T, Corica D, Pepe G, et al.

    Minerva endocrinology 2021; (46(4)):469-480 doi:10.23736/S2724-6507.20.03285-X.

    PMID: 33435643
  10. 10

    Effect of Growth Hormone and Estrogen Replacement Therapy on Bone Mineral Density in Women with Turner Syndrome: A Meta-Analysis and Systematic Review.

    Szybiak W, Kujawa B, Miedziaszczyk M, Lacka K

    Pharmaceuticals (Basel, Switzerland) 2023; (16(9)) doi:10.3390/ph16091320.

    PMID: 37765128
  11. 11

    Effects of Hormone Replacement Therapy on Bone Mineral Density in Korean Adults With Turner Syndrome.

    Kim S, Kim H, Lee I, et al.

    Journal of Korean medical science 2024; (39(1)):e9 doi:10.3346/jkms.2024.39.e9.

    PMID: 38193328
  12. 12

    Effects of age at estrogen replacement therapy initiation on trabecular bone score in Japanese adults with Turner syndrome.

    Saito S, Koga E, Okada Y, et al.

    Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2021; (32(4)):671-680 doi:10.1007/s00198-020-05652-1.

    PMID: 32968889
  13. 13

    A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.

    Mavridi A, Ntali G, Theodora M, et al.

    Journal of pediatric and adolescent gynecology 2018; (31(6)):651-654 doi:10.1016/j.jpag.2018.07.005.

    PMID: 30012427
  14. 14

    Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.

    van der Coelen S, van der Velden J, Nadesapillai S, et al.

    Human reproduction update 2024; (30(4)):383-409 doi:10.1093/humupd/dmae005.

    PMID: 38452347
  15. 15

    Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.

    Oktay K, Bedoschi G, Berkowitz K, et al.

    Journal of pediatric and adolescent gynecology 2016; (29(5)):409-416 doi:10.1016/j.jpag.2015.10.011.

    PMID: 26485320
  16. 16

    Female fertility preservation in DSD.

    Kalra R, Cameron M, Stern C

    Best practice & research. Clinical endocrinology & metabolism 2019; (33(3)):101289 doi:10.1016/j.beem.2019.101289.

    PMID: 31331728
  17. 17

    Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.

    Cheng J, Ruan X, Du J, et al.

    Frontiers in endocrinology 2022; (13()):959912 doi:10.3389/fendo.2022.959912.

    PMID: 36479213
  18. 18

    Trends and outcomes of fertility preservation for girls, adolescents and young adults with Turner syndrome: A prospective cohort study.

    Rodriguez-Wallberg KA, Sergouniotis F, Nilsson HP, Lundberg FE

    Frontiers in endocrinology 2023; (14()):1135249 doi:10.3389/fendo.2023.1135249.

    PMID: 36936144
  19. 19

    The current management of Turner syndrome.

    Kriksciuniene R, Zilaitiene B, Verkauskiene R

    Minerva endocrinologica 2015;.

    PMID: 26448154

This page provides educational information about Turner syndrome growth and hormone therapies. Always consult your pediatric endocrinologist before starting or adjusting hormone treatments.

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