The Process of Pubertal Induction in Girls with Turner Syndrome: From Patients' and Family's Perspective

In most patients with Turner syndrome (TS) pharmacological pubertal induction (PI) is required to allow the development of female secondary sex characteristics and to reach menarche. The aim of the study was to discuss and assess the process of PI, satisfaction with breast development and side effects of therapy from the patient's and their family's perspective.

Patients with TS/their caregivers were contacted via social media and encouraged to take part in a 15-question anonymous survey regarding the use of estrogen-progesterone replacement therapy (E-PRT).

A total of 109 participants responded to the survey, 70.6% reported that PI commenced between the ages of 10 and 16. Oral estradiol (E2) was most frequently offered to patients (38.5%) and recommended by 33.9% of respondents. Among the youngest generation transdermal E2 patches were the most frequently utilized method. The most important considerations in choosing a preparation was ease of use (41.3%). Totally, 58.7% of women were satisfied with the development of their breasts, and no form of estrogen therapy proved to be better than others in this respect. The older age at start of treatment was associated with a tendency to poorer satisfaction with breast development. 41.3% of all participants did not report any side effects of hormonal therapy.

The age to initiate puberty pharmacologically and the types of estrogen preparations used for this purpose varied across different age groups, however, with a tendency to mimic physiology and recommended protocols. The timing and mode of PI should aim to maximize intended effects, reduce risks of side effects and be simple to use. The aim should be to meet patients' expectations to ensure that they are not discouraged from taking long-term E-PRT.