• Features of the puberty at girls with Turner’s syndrome with different karyotype
To content

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.



1. Дедов ИИ, Петеркова ВА, Волеводз НН. 2009. Синдром Шерешевского—Тернера (патогенез, клиника, диагностика, лечение). Метод реком. МЗ РФ, ГУЭНЦ РАМН. М, ГУЭНЦ РАМН: 56.

2. Про затвердження протоколів надання медичної допомоги дітям за спеціальністю «Дитяча ендокринологія». Наказ МОЗ України № 55 від 03.02.2009 року. http://www.moz.gov.ua.

3. Про створення реєстру дітей, хворих на гіпофізарний нанізм. Наказ МОЗ України № 84 від 16.02.2004 року. http://www.moz.gov.ua.

4. Cools M, Rooman RP, Wauters J et al. 2004. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter. Fertil Steril. 82(4): 923—925.

5. Bondy CA. 2007. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Consensus Study Group. J Clin Endocrin Metab. 92(1): 10—25. http://dx.doi.org/10.1210/jc.2006-1374; PMid:17047017

6. Balen AH, Harris SE, Chambers EL et al. 2010. Conservation of fertility and oocyte genetics in a young woman with mosaic Turner syndrome. British Journal of Obstetrics and Gynaecology. 117: 238—242.

7. Hagen CP, Main KM, Kjaergaard S, Juul A. 2010. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without sponY taneous puberty. Hum Reprod. 25(12): 3134—3141. http://dx.doi.org/10.1093/humrep/deq291; PMid:20956269

8. Hall H, Hunt P, Hassold T. 2006. Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneY uploidy; how aneuploidy causes meiotic errors. Current Opinion in Genetics & Development. 16: 323—329.

9. Hook EB, Warburton D. 2014. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet. 133(4): 417—424.

10. Karolinska HO. 2012. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Pediatr Endocrinol Rev. 9(2): 713—717.

11. Hadnott TN, Gould HN, Gharib AM et al. 2011. Outcomes of spontaneous and assisted pregnancies in Turner syndrome. Fertility and Sterility. 95: 2251—2256.

12. Bryman I, Sylven L, Berntorp K et al. 2011. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertility and Sterility. 95: 2507—2510.

13. Mortensen KH, Rohde MD, Uldbjerg N et al. 2010. Repeated spontaneous pregnancies in 45 X Turner syndrome. Obstetrics and Gynecology. 115;2 Pt. 2: 446—449.

14. Aso K, Koto S, Higuchi A et al. 2010. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocr J. 57(10): 909—913. http://dx.doi.org/10.1507/endocrj.K10E-092; PMid:20798475

15. Carpini S, Carvalho AB, Guerra-Junior G et al. 2012. Spontaneous puberty in girls with early diagnosis of Turner syndrome. Arq Bras Endocrinol Metabol. 56(9): 653—657. http://dx.doi.org/10.1590/S0004-27302012000900009; PMid:23329189

16. Sugawara N, Kimura Y, Araki Y. 2013. Case report: a successful pregnancy outcome in a patient with nonYmosaic Turner syndrome (45, X) via in vitro fertilization. Hum Cell. 26(1): 41—43. http://dx.doi.org/10.1007/s13577-012-0047-2; PMid:23430508

17. Sybert VP, McCauley E. 2004. Turner's Syndrome. N Engl J Med. 351: 1227—1238.

18. Bouchlariotou S, Tsikouras P, Dimitraki M et al. 2011. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis. Own clinical experience and literature review. 24(5): 668—672.

19. Bouchlariotou S, Tsikouras P, Dimitraki M et al. 2011. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med. 24(5): 668—672. http://dx.doi.org/10.3109/14767058.2010.520769; PMid:20923275

20. Elsedfy HH, Hamza RT, Farghaly MH, Ghazy MS. 2012. Uterine development in patients with Turner syndrome: relation to horY mone replacement therapy and karyotype. J Pediatr Endocrinol Metab. 25(5—6): 441—445.