- Features of the puberty at girls with Turner’s syndrome with different karyotype
Features of the puberty at girls with Turner’s syndrome with different karyotype
SOVREMENNAYA PEDIATRIYA.2015.3(67):54-58; doi10.15574/SP.2015.67.54
Features of the puberty at girls with Turner's syndrome with different karyotype
Zelinskaya N., Shevchenko I., Globa E., Pogadaeva N.
Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of the MOH of Ukraine, Kyiv, Ukraine
National Children's Specialized Hospital «OHMATDYT», Kyiv, Ukraine
Objective: assess the characteristics of puberty the patients with Turner's syndrome (TS) depending on the karyotype in the Ukrainian population.
Materials and methods. The analysis of the sexual development of 396 girls aged 8 to 18.2 years with TS based on karyotype using registry data Ukraine children with delayed growth. In-depth examination conducted 123 puberty age girls with TS, detection of clinical, functional and hormonal signs of puberty.
Result: true spontaneous puberty was observed in 14.6% of girls in middle age 15.2±1.6 years. It occurred in 25.8% of patients with a mosaic karyotype option, at 11.5% — with karyotype 45,Х, and 9.6% of girls with the presence of structural abnormalities of chromosome X. The levels of FSH and LH in serum girls of puberty age with TS significantly higher in the presence of structural abnormalities of chromosome X and reliably lowest — in the case of chromosomal mosaicism. The normal-sized uterus and ovaries were observed respectively in 7.7% and 26.5% of girls with chromosomal mosaicism, 3.1% and 18.7% of girls with structural abnormalities of chromosome X and 2% and 9.4% of patients with karyotype 45,X. This may indicate the possible presence of a normal female karyotype 46,XX ovarian tissue and stored their function.
Conclusions. There are many opportunities for fertility provision to women with Turner syndrome is known. It is highly important in this case to apply timely and adequate therapy by reproductive sex hormones, from the very pre-puberty age with the aim of forming of approximate physiological sexual development, achievement of the normal size of the uterus and ovaries and regular menstrual cycle.
Keywords: Turner's syndrome, children, karyotype, puberty.
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