Abstract
ObjectiveMost girls and women with Turner syndrome (TS) require estrogen replacement therapy (ERT) to initiate or maintain pubertal development. Most likely, the most fundamental effect of ERT in hypogonadism is the promotion of uterine growth. The optimal ERT model is still being discussed. The present study aimed to assess uterine size in girls with TS in the prepubertal state during and after the induction of puberty and compare it to a healthy population.MethodsThe analysis encompassed 40 TS girls. The prepubertal and postpubertal control groups contained 20 healthy girls each. All patients with TS were treated with 17-ß estradiol. Uterine imaging was performed with two-dimensional (2D) transabdominal ultrasound. The uterine volume (UV) and fundocervical antero-posterior ratio (FCR) were calculated in patients with TS before the pubertal induction, after 6-12 months of estrogen replacement therapy (ERT), after ≥ 36 months of ERT or ≥ 12 months after menarche.ResultsThe average age of TS patients at estrogen introduction and at the last control visit, when the uterus was considered mature, was 12.9 years and 16.1 years, respectively. The UV in patients with TS at the beginning of ERT was 1.55 ± 1.22 cm3 and was not significantly different from the UV in the prepubertal controls. The mature UV in patients with TS was 31.04 ± 11.78 cm3 and was significantly smaller than the UV of the postpubertal controls (45.68 ± 12.51 cm3, p<0.001). The FCR in girls with TS did not differ significantly from that in the prepubertal and postpubertal control groups, respectively. No prognostic factors could be established for the final UV. By the last control visit, thelarche had advanced in most patients to Tanner 4 and 5 (37.5% and 40%, respectively).ConclusionsBefore the onset of ERT, patients with TS have a uterus similar in size to that in prepubertal healthy girls. Pubertal induction in patients with TS causes a significant increase in the UV that is detectable after 6-12 months of ERT. The mature uterus is smaller in patients with TS than in the age-matched healthy population.
Highlights
Turner syndrome (TS) is a sex chromosome abnormality
Pubertal induction in our TS patients resulted in a significant increase in uterine volume (UV), which was already evident after the first 6-12 months of estrogen replacement therapy (ERT) with low E2 doses
The uterus appeared sensitive to very low estrogen levels, we suggest that proper uterine measurements might be used to titrate estradiol dosages during the induction of puberty
Summary
Turner syndrome (TS) is a sex chromosome abnormality. TS is caused by complete or partial loss of one of the X chromosomes in a phenotypic female. Some girls with TS present spontaneous puberty, approximately 90% of girls and women with TS require or will require estrogen replacement therapy (ERT) to initiate or maintain pubertal development [2]. It is recommended that women with TS receive estrogen and progestin replacement, which allows them to achieve pubertal features and to subsequently maintain secondary sex characteristics, attain peak bone mass and normalize uterine growth for possible future pregnancy [3]. Some uterine growth is noticeable at the age of 6 years, but the majority occurs during puberty and continues beyond the time of menarche and full breast development [5, 6]. Lack of estrogens leads to hypoplasia of the uterus [7, 8]
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