In Turner Syndrome (TS) the ovaries usually start to involute within 4 or 5 months of gestation. Consequently, the majority of patients have diminished ovarian estrogen production leading to the (Partial) absence of puberty. These girls need estrogen therapy to induce pubertal maturation. For many parents of girls with TS, talking about ovaries, puberty and, particularly, infertility is a stressful thing. However, timely age-appropriate disclosure about these subjects, starting between the age of 8-10 years, is essential. Although ultra-low dose estrogens before the pubertal age could be beneficial for growth and psychological development, there is not enough evidence yet to support this. In addition, treatment with estrogens in the prepubertal phase has the risk of overtreatment with as a consequence premature breast development and early epiphyseal closure. From a psychosexual point of view, it is important that the pubertal induction starts at a similar age as their peers. Estrogens should be started when breast development does not occur and the serum gonadotrophins are high at the age of 11-12 years. The girls need information about the expected tempo of the breast development and the fact that the adult size of the breasts is not influenced by the estrogen dose. Although it is clear that a fast increase of the estrogen dose leads to earlier epiphyseal closure and consequently a lower adult height than desired, a slow increase in estrogen dose over 4 years is not associated with an impairment on growth. Dependent on the body weight of the girl, a starting dose of 1/10th – 1/16th of the adult dose is appropriate. Although dose transdermal 17 β-estradiol seems to be the most optimal treatment, studies comparing low dose transdermal vs. oral estrogens are lacking. The absence of availability of low dose estrogens in many countries can interfere with the most optimal choice for pubertal induction. Fortunately, most matrix estradiol patches can easily and safely be cut in small pieces and can be stored at room temperature up to temperatures of 35o C. Measuring estrogen levels during pubertal induction does not seems to be helpful in the decision to change the dose, but it can help in searching for the correct adult dose. Progestogens are recommended once breakthrough bleeding occurs or after 2 years of estrogen. In every step, the wish of the girl has to be taken into account, since at pubertal age some girls find height less important than breasts.
15 Sep 2022 - 17 Sep 2022