Puberty & Development
Genes on the X chromosome regulate the development and function of the ovaries, and because Turner syndrome (TS) results in a missing or altered X chromosome, most individuals with TS experience loss of ovarian function early in childhood. In girls with two X chromosomes, the ovaries produce the hormone estrogen which stimulates puberty. Therefore, a majority of girls with TS will not experience spontaneous puberty.
According to the Clinical Practical Guidelines a lack of spontaneous pubertal development is one of the most common clinical features of TS. It is standard medical practice to prescribe estrogen to girls with TS to induce breast development and other features of puberty. Up to 30% of girls will experience some pubertal development, and spontaneous pregnancies might occur in 2-5% of women with TS. However, over 90% of individuals with TS will ultimately have gonadal failure.
Long term treatment with estrogen-progesterone will help girls and women with Turner syndrome maintain their secondary sexual development and to protect their bones from osteoporosis until the age of menopause.
Estrogen Replacement Therapy for Turner Syndrome
Estrogen replacement therapy helps Turner syndrome girls begin puberty, support sexual development, strengthen bones, and improve wellbeing.
View Resource →Evidence for Early Initiation of Growth Hormone
Early growth hormone therapy combined with transdermal estradiol in girls with Turner syndrome leads to better height outcomes than delayed or oral estrogen treatment.
View Resource →Hormone Replacement and the Risk of Breast Cancer in Turner’s Syndrome
A study of 65 Turner syndrome patients found no breast cancer after 25–43 years of hormone replacement therapy, suggesting HRT does not raise breast cancer risk in TS.
View Resource →Optimizing Estrogen Replacement Treatment in Turner Syndrome
Low-dose systemic estradiol given alongside growth hormone therapy in Turner syndrome girls resulted in 2.6 cm greater height gains than standard estrogen treatment.
View Resource →Sex Hormone Replacement in Turner Syndrome
This review examines sex hormone replacement therapy in Turner syndrome, including timing, dosing, and long-term health outcomes.
View Resource →Understanding Alternatives for Estrogen Preparations
FDA-approved estrogen alternatives to Premarin, including plant-derived estradiol, offer Turner syndrome patients options that match the body's natural hormone
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