Endocrine Abstracts

Introduction

Turner syndrome (TS) is usually accompanied by hyperhonadotroic hypogonadism and primary amenorrhea due to gonadal disgenesis. One-third of girls with TS have spontaneous thelarhe (ST). Regular menstrual cycles occur in at most 6% of this patients.

Objectives

To analyze the characteristics of pubertal development in children with different karyotype variants of TS.

Methods

This is a retrospective study, analyzing clinical data from medical records of 135 patients with TS from 13 to 18 years, who were regularly followed-up in the Republican Center of Endocrinology (Minsk). Karyotype was identified in blood lymphocyte culture in all patients. Depending on the karyotype, 4 groups of patients were identified the first group with X-monosomy (n =72), the second group with mosaic variant 45, X/46, XX (45, X/47, XXX/46, XX; 45, Х/47ХХХ) (n =18), the third group with isochromosome iXq (n =16) and the fourth group with other karyotypes (n =29). Retrospective assessment of the age of thelarche and menarche was performed. The results were processed using SPSS.22.

Results

TS was diagnosed in patients with characteristic phenotypic signs according to the results of karyotyping at the age of 9.8 [3.8–12.8] years. A total of 17.8% (n = 24) of TS girls experienced ST. The average age of ST was 12.5 ± 1.61 years. Estrogen replacement was initiated in 78.5% (n = 106) of girls. Spontaneous pubertal development was more frequently observed in TS with mosaicism (50%) than in TS with X-monosomy (2.8%), isochromosome iXq (18.75%) and other karyotypes (34.5%) (χ² =29.4; P < 0.001). Spontaneous menarche was observed in 61.1% (n = 11) of TS girls over 15 years old with ST (9.1% of all patients). The average age of spontaneous menarche was 14 ± 0.97 years. 38.9% (n = 7) of TS girls with ST showed no progression of pubertal signs for 6 months and secondary amenorrhea, which required prescribing sex hormone replacement therapy. In patients with a mosaic variant of the karyotype 45, Х/46, ХХ spontaneous completed pubertal was observed more frequently (50%, χ²=28.8; P < 0.001). A regular menstrual cycle was also observed in a girl with a 45, Х karyotype, suggesting the presence of mosaicism in the ovaries in monosomia X in peripheral blood leukocytes.

Conclusions

Our data showed much higher rates of ST and spontaneous menarche in girls with mosaic variant 45, X/46, XX (45, X/47, XXX/46, XX; 45, Х/47ХХХ) of TS compared to other karyotype variants. Karyotype should be taken into account when deciding on expected puberty and possibly reproductive potential.