Рецепт. 2019; : 405-417
Прогностические факторы эффективности применения гормона роста у детей с синдромом Шерешевского – Тернера
Аннотация
Синдром Шерешевского – Тернера встречается с частотой 1 случай на 2000-2500 новорожденных девочек и является наиболее распространенной хромосомной аномалией, приводящей к низкорослости. Правильный выбор тактики лечения позволяет значительно улучшить ростовой прогноз и повысить качество жизни пациенток. Однако предметом дискуссии остается возраст начала, режим дозирования и продолжительность терапии соматотропным гормоном. В исследование вошли 62 ребенка с синдромом Шерешевского – Тернера, получавших непрерывное лечение препаратами соматропина в недельной дозе 0,33 мг/кг в течение года и более. Оценена динамика антропометрических и гормональных показателей ростовой оси (скорость роста (см/год), ΔSDS роста, костный возраст, уровень ИФР-1) до старта и во время терапии гормоном роста. Установлено, что важными прогностическим факторами эффективности лечения являются возраст начала и длительность применения гормона роста до старта пубертата, степень отставания костного возраста на момент начала терапии, динамики показателей скорости роста и SDS роста на первом году лечения соматропином.
Список литературы
1. Gravholt C.H., Andersen N.H., Conway G.S. (2017) Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology, vol. 177, no 3, pp. G1–G70.
2. Lyon A.J., Preece M.A., Grant D.B. (1985) Growth curve for girls with Turner syndrome. Arch Dis Child, vol. 60, pp. 932–935
3. Clement-Jones M., Schiller S., Rao E., Blaschke R.J. (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet., vol. 22, no 9 (5), pp. 695–702.
4. Ko J.M., Kim J.M., Kim G.H., Lee B.H., Yoo H.W. (2010) Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. Clinical Endocrinology, vol. 73, pp. 66–71.
5. Gravholt C.H., Chen J.W., Oxvig C., Overgaard M.T. (2006) The GH-IGF-IGFBP axis is changed in Turner syndrome: partial normalization by HRT. Growth Horm IGF Res, vol. 16, no 5–6, pp. 332–339.
6. Soriano-Guillen L., Coste J., Ecosse E. (2005) Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone. Journal of Clinical Endocrinology and Metabolism, vol. 90, pp. 5197–5204.
7. Davenport M.L. (2006) Evidence for early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome. Growth Horm IGF Res, vol. 16, Suppl A, pp. 91–97.
8. Rosenfeld R.G. (1992) Growth hormone therapy in Turner’s syndrome: an update on final height. Genentech National Cooperative Study Group. Acta Paediatrica, vol. 383, pp. 3–6.
9. Stephure D.K. (2005) Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial. Journal of Clinical Endocrinology and Metabolism, vol. 90, pp. 3360–3366.
10. Davenport M.L., Crowe B.J., Travers S.H. (2007) Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multi-center trial. Journal of Clinical Endocrinology and Metabolism, vol. 92, pp. 3406–3416.
11. Quigley C.A., Crowe B.J., Anglin D.G. & Chipman J.J. (2002) Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height. Journal of Clinical Endocrinology and Metabolism, vol. 87, pp. 2033–2041.
12. Ross J.L., Quigley C.A., Cao D., Feuillan P., Kowal K., Chipman J.J. & Cutler G.B. Jr. (2011) Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. New England Journal of Medicine, vol. 364, pp. 1230–1242.
13. Wasniewska M., Aversa T., Mazzanti L., Guarneri M.P., Matarazzo P., De Luca F., Lombardo F., Messina M.F., Valenzise M. (2013) Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose. European Journal of Endocrinology, vol. 169, pp. 439–443.
14. Chu C.E., Paterson W.F., Kelnar C., Smail P..J, Greene S.A. & Donaldson M. (1997) Variable effect of growth hormone on growth and final adult height in Scottish patients with Turner’s syndrome. Acta Paediatrica, vol. 86, pp. 160–164.
15. Dacou-Voutetakis C., Karavanaki-Karanassiou K., Petrou V., Georgopoulos N., Maniati-Christidi M. & Mavrou A. (1998) The growth pattern and final height of girls with Turner syndrome with and without human growth hormone treatment. Pediatrics, vol. 101, pp. 663–668.
16. Sybert V.P. (1984) Adult height in Turner syndrome with and without androgen therapy. Journal of Pediatrics, vol. 104, pp. 365–369.
17. Linglart A., Cabrol S., Berlier P., Stuckens C. (2011) Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome. European Journal of Endocrinology, vol. 164, pp. 891–897.
18. WHO AnthroPlus software (electronic resource). Available at: https://www.who.int/growthref/tools/en/ (accessed 19 March 2019).
19. Tanner J.M., Goldstein H., Whitehouse R.H. (1970) Standards for children’s height at ages 2–9 years allowing for heights of parents. Arch Dis Child, vol. 45, pp. 755–762.
20. Greulich W.W., Pyle S.I. (1959) Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford University Press: Stanford.
21. Lofqvist C., Andersson E., Gelander L. (2001) Reference values for IGF-I throughout childhood and adolescence: a model that accounts simultaneously for the effect of gender, age, and puberty. J Clin Endocrinol Metab, vol. 86, no 12, pp. 5870–5876.
22. Ranke M.B., Lindberg A., Ferra´ndez Longa´s A., Darendeliler F., Albertsson-Wikland K., Dunger D., Cutfield W.S., Tauber M., Wilton P., Wollmann H.A. (2007) Major determinants of height development in Turner syndrome (TS) patients treated with GH: analysis of 987 patients from KIGS. Pediatric Research, vol. 61, pp. 105–110.
23. Low L., Sham C., Kwan E., Karlberg J., Tang G., Cheung P.T., Pang H., Tse W., But B., Yu C.M. (1997) Spontaneous growth in Chinese patients with Turner’s syndrome and influence of karyotype. Acta Paediatrica, vol. 86, pp. 18–21.
24. Yaegashi N., Uehara S., Ogawa H., Hanew K., Igarashi A., Okamura K. & Yajima A. (2000) Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner’s syndrome. Gynecologic and Obstetric Investigation, vol. 50, pp. 237–241.
25. Robles Valde´s C., del Castillo Ruiz V., Oyoqui J., Altamirano Bustamante N., de la Luz Ruiz Reyes M. & Calzada Leo´n R. (2003) Growth, growth velocity and adult height in Mexican girls with Turner’s syndrome. Journal of Pediatric Endocrinology and Metabolism, vol. 16, pp. 1165–1173.
26. Ranke M.B., Pflu¨ger H., Rosendahl W., Stubbe P., Enders H., Bierich J.R. & Majewski F. (1983) Turner syndrome: spontaneous growth in 150 cases and review of the literature. European Journal of Pediatrics, vol. 141, pp. 81–88.
27. Rochiccioli P., Malpuech G., Colle M., Limal J.M., Battin J., Mariani R., Sultan C., Nivelon J.L., Simonin G., Bost M. (1994) Study of final height in Turner’s syndrome: ethnic and genetic influences. Acta Paediatrica, vol. 83, pp. 305–308.
28. Elodie Fiot, Delphine Zenaty, Priscilla Boizeau (2016) X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome. European Journal of Endocrinology, vol. 174, pp. 281–288.
29. Ranke M.B., Lindberg A., Brosz M., Kaspers S., Loftus J., Wollmann H., Koltowska-Haggstrom M., Roelants M. (2012) Accurate longterm prediction of height during the first four years of growth hormone treatment in prepubertal children with growth hormone deficiency or Turner Syndrome. Hormone Research in Paediatrics, vol. 78, pp. 8–17.
Recipe. 2019; : 405-417
Prognostic Factors of the Growth Hormone Treatment Effectiveness in Children with Turner Syndrome
Abstract
Turner syndrome is the most common chromosomal abnormality, resulting in short stature and occurring in approximately 1 in 2000-2500 newborn girls. The correct treatment tactic allows to significantly improvement of the growth forecast and increases the quality of patient’s life. However, the age of the beginning, the dosing regimen and the duration of hormonal therapy remains the subject of a discussion. The study included 62 children with Turner syndrome, who received continuous treatment with a somatropin in a dose of 0.33 mg/kg/week within a year and more.
Anthropometrical and hormonal indicators of a growth axis (growth velocity (cm/year), growth ΔSDS, bone age, IGF-1 level) before and during therapy by growth hormone were estimated. It was revealed that the age of the onset and duration of growth hormone treatment before start of puberty, bone age before using of somatropin, dynamics of growth velocity and growth SDS on the first year of treatment are the important predictive factors of therapeutic efficacy.
References
1. Gravholt C.H., Andersen N.H., Conway G.S. (2017) Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology, vol. 177, no 3, pp. G1–G70.
2. Lyon A.J., Preece M.A., Grant D.B. (1985) Growth curve for girls with Turner syndrome. Arch Dis Child, vol. 60, pp. 932–935
3. Clement-Jones M., Schiller S., Rao E., Blaschke R.J. (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet., vol. 22, no 9 (5), pp. 695–702.
4. Ko J.M., Kim J.M., Kim G.H., Lee B.H., Yoo H.W. (2010) Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. Clinical Endocrinology, vol. 73, pp. 66–71.
5. Gravholt C.H., Chen J.W., Oxvig C., Overgaard M.T. (2006) The GH-IGF-IGFBP axis is changed in Turner syndrome: partial normalization by HRT. Growth Horm IGF Res, vol. 16, no 5–6, pp. 332–339.
6. Soriano-Guillen L., Coste J., Ecosse E. (2005) Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone. Journal of Clinical Endocrinology and Metabolism, vol. 90, pp. 5197–5204.
7. Davenport M.L. (2006) Evidence for early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome. Growth Horm IGF Res, vol. 16, Suppl A, pp. 91–97.
8. Rosenfeld R.G. (1992) Growth hormone therapy in Turner’s syndrome: an update on final height. Genentech National Cooperative Study Group. Acta Paediatrica, vol. 383, pp. 3–6.
9. Stephure D.K. (2005) Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial. Journal of Clinical Endocrinology and Metabolism, vol. 90, pp. 3360–3366.
10. Davenport M.L., Crowe B.J., Travers S.H. (2007) Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multi-center trial. Journal of Clinical Endocrinology and Metabolism, vol. 92, pp. 3406–3416.
11. Quigley C.A., Crowe B.J., Anglin D.G. & Chipman J.J. (2002) Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height. Journal of Clinical Endocrinology and Metabolism, vol. 87, pp. 2033–2041.
12. Ross J.L., Quigley C.A., Cao D., Feuillan P., Kowal K., Chipman J.J. & Cutler G.B. Jr. (2011) Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. New England Journal of Medicine, vol. 364, pp. 1230–1242.
13. Wasniewska M., Aversa T., Mazzanti L., Guarneri M.P., Matarazzo P., De Luca F., Lombardo F., Messina M.F., Valenzise M. (2013) Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose. European Journal of Endocrinology, vol. 169, pp. 439–443.
14. Chu C.E., Paterson W.F., Kelnar C., Smail P..J, Greene S.A. & Donaldson M. (1997) Variable effect of growth hormone on growth and final adult height in Scottish patients with Turner’s syndrome. Acta Paediatrica, vol. 86, pp. 160–164.
15. Dacou-Voutetakis C., Karavanaki-Karanassiou K., Petrou V., Georgopoulos N., Maniati-Christidi M. & Mavrou A. (1998) The growth pattern and final height of girls with Turner syndrome with and without human growth hormone treatment. Pediatrics, vol. 101, pp. 663–668.
16. Sybert V.P. (1984) Adult height in Turner syndrome with and without androgen therapy. Journal of Pediatrics, vol. 104, pp. 365–369.
17. Linglart A., Cabrol S., Berlier P., Stuckens C. (2011) Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome. European Journal of Endocrinology, vol. 164, pp. 891–897.
18. WHO AnthroPlus software (electronic resource). Available at: https://www.who.int/growthref/tools/en/ (accessed 19 March 2019).
19. Tanner J.M., Goldstein H., Whitehouse R.H. (1970) Standards for children’s height at ages 2–9 years allowing for heights of parents. Arch Dis Child, vol. 45, pp. 755–762.
20. Greulich W.W., Pyle S.I. (1959) Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford University Press: Stanford.
21. Lofqvist C., Andersson E., Gelander L. (2001) Reference values for IGF-I throughout childhood and adolescence: a model that accounts simultaneously for the effect of gender, age, and puberty. J Clin Endocrinol Metab, vol. 86, no 12, pp. 5870–5876.
22. Ranke M.B., Lindberg A., Ferra´ndez Longa´s A., Darendeliler F., Albertsson-Wikland K., Dunger D., Cutfield W.S., Tauber M., Wilton P., Wollmann H.A. (2007) Major determinants of height development in Turner syndrome (TS) patients treated with GH: analysis of 987 patients from KIGS. Pediatric Research, vol. 61, pp. 105–110.
23. Low L., Sham C., Kwan E., Karlberg J., Tang G., Cheung P.T., Pang H., Tse W., But B., Yu C.M. (1997) Spontaneous growth in Chinese patients with Turner’s syndrome and influence of karyotype. Acta Paediatrica, vol. 86, pp. 18–21.
24. Yaegashi N., Uehara S., Ogawa H., Hanew K., Igarashi A., Okamura K. & Yajima A. (2000) Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner’s syndrome. Gynecologic and Obstetric Investigation, vol. 50, pp. 237–241.
25. Robles Valde´s C., del Castillo Ruiz V., Oyoqui J., Altamirano Bustamante N., de la Luz Ruiz Reyes M. & Calzada Leo´n R. (2003) Growth, growth velocity and adult height in Mexican girls with Turner’s syndrome. Journal of Pediatric Endocrinology and Metabolism, vol. 16, pp. 1165–1173.
26. Ranke M.B., Pflu¨ger H., Rosendahl W., Stubbe P., Enders H., Bierich J.R. & Majewski F. (1983) Turner syndrome: spontaneous growth in 150 cases and review of the literature. European Journal of Pediatrics, vol. 141, pp. 81–88.
27. Rochiccioli P., Malpuech G., Colle M., Limal J.M., Battin J., Mariani R., Sultan C., Nivelon J.L., Simonin G., Bost M. (1994) Study of final height in Turner’s syndrome: ethnic and genetic influences. Acta Paediatrica, vol. 83, pp. 305–308.
28. Elodie Fiot, Delphine Zenaty, Priscilla Boizeau (2016) X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome. European Journal of Endocrinology, vol. 174, pp. 281–288.
29. Ranke M.B., Lindberg A., Brosz M., Kaspers S., Loftus J., Wollmann H., Koltowska-Haggstrom M., Roelants M. (2012) Accurate longterm prediction of height during the first four years of growth hormone treatment in prepubertal children with growth hormone deficiency or Turner Syndrome. Hormone Research in Paediatrics, vol. 78, pp. 8–17.
