Anthropometric Indices in Turner Syndrome

  • Anna M. Kucharska


Turner syndrome (TS) is defined as the complex of characteristic physical features in a phenotypic female, caused by complete or partial X monosomy in some or all cell lines. It is a relatively common chromosomal aberration, but the variability of phenotypes among the patients is very large. In a majority of patients with Turner syndrome, one can expect short stature and infertility. Many of the characteristic features are detectable by physical examination, and anthropometric measurements are a valuable tool in the diagnostics and therapy in TS. In this chapter, the symptoms of Turner syndrome are introduced and their anthropometric aspects are pointed out. The relevance of anthropometric examination in the diagnostics and monitoring of therapy in Turner syndrome is described. A natural development of body constitution and composition is characterized according to several studies performed on children and adults. The alterations of anthropometric parameters during hormonal therapy are depicted. Anthropometric indices are shown as valuable markers of the effectiveness of growth hormone treatment, as well as markers of metabolic effects of growth hormone, sex steroids, and insulin sensitivity. The conditions for the appropriate anthropometric examination of the patient with Turner syndrome and evaluation of the appropriate measurements are described.


Obesity Estrogen Testosterone Androgen Estradiol 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Body mass index


Fat mass


Growth hormone


Homeostatic model assessment- index


Insulin-like growth factor-1


Lean body mass


Standard deviation score


Sex hormone binding globulin


Short stature homeobox-containing gene


Turner syndrome


  1. Blackett PR, Rundle AC, Frame J, Bletchen SL. Body mass index (BMI) in Turner Syndrome before and during growth hormone (GH) therapy. Int J Obes Relat Metab Disord. 2000;24(2):232–5.CrossRefGoogle Scholar
  2. Bondy CA. Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrnol Metab. 2007;92(1):10–25.CrossRefGoogle Scholar
  3. Bösze P, Eiben OG, Gaal M, Laszlo J. Body measurements of patients with streak gonads and their bearing upon the karyotype. Hum Genet. 1980;54(3):355–60.PubMedCrossRefGoogle Scholar
  4. Caprio S, Boulware S, Diamond M, Sherwin R, Carpenter TO, Rubin K, Amiel S, Press M Tamborlane WV. Insulin resistance: an early metabolic defect of Turner’s syndrome. J Clin Endocrinol Metab. 1991;72(4):832–6.PubMedCrossRefGoogle Scholar
  5. Cohen A, Kauli R, Pertzelan A, Lavagetto A, Roitmano Y, Romano C, Laron Z. Final height of girls with Turner’s syndrome: correlation with karyotype and parental height. Acta Paediatr Scand. 1995;84(5):550–4CrossRefGoogle Scholar
  6. Eggert P, Pankau R, Oldias HD. How necessary is a chromosomal analysis in growth-retarded girls? Clin Genet. 1990;37(5):351–4.PubMedCrossRefGoogle Scholar
  7. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocr Rev. 2002;23(1):120–40PubMedCrossRefGoogle Scholar
  8. Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner’s syndrome: a registry study. BMJ. 1996;321(7022):16–21.CrossRefGoogle Scholar
  9. Gravholt CH, Naeraa RW. Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome. Am J Med Genet. 1997;72(4):403–8.PubMedCrossRefGoogle Scholar
  10. Gravholt CH, Fedder J, Naeraa RW, Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab. 2000;85(9):3199–202.PubMedCrossRefGoogle Scholar
  11. Gravholt CH, Hjerrild BE, Naeraa RW, Engbaek F, Mosekilde L, Christiansen JS. Effect of growth hormone and 17beta-oestradiol treatment on metabolism and body com position in girls with Turner syndrome. Clin Endocrinol. 2005;62:(5)616–22CrossRefGoogle Scholar
  12. Gravholt CH, Hjerrild BE, Mosekilde L, Hansen TK, Rasmussen LM, Frystyk J, Flyvbjerg A, Christiansen JS. Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules. Eur J Endocrinol. 2006;155(4):583–92.PubMedCrossRefGoogle Scholar
  13. Hanaki K, Ohzeki T, Ishitani N, Mozozumi N, Matsuda- Ohtahara H, Shiraki K. Fat distribution in overweight patients with Ullrich-Turner syndrome. Am J Med Genet. 1993;42(4):428–30.CrossRefGoogle Scholar
  14. Held KR, Kerber S, Kaminsky E, Sungh S, Goetz P, Seemanova E, Goedde HW. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet. 1992;88:288–94.PubMedCrossRefGoogle Scholar
  15. Hovatta O. Pregnancies in women with Turner’s syndrome. Ann Med. 1999;31:106–10.PubMedGoogle Scholar
  16. Karlberg J, Albertsson-Wikland K. Excerp Med ICS. 1995;1089:75–86.Google Scholar
  17. Kucharska AM, Majcher A, Rymkiewicz-Kluczynska B. Anthropometric parameters prognosticating a good final height in patients with Turner syndrome during growth hormone therapy. [Article in Polish] Pediatr Endocrinol Diabetes Metab. 2007;13(3):165–70.Google Scholar
  18. Lyon AL, Preece MA, Grant DB. Growth curve for girls with Turner syndrome. Arch Dis Child. 1985;60(10):932–5.PubMedCrossRefGoogle Scholar
  19. Ostberg JE, Thomas EL, Hamilton C, Hosseinzadeh Attar MJ, Bell JD, Conway G. Excess visceral and hepatic adipose tissue in Turner syndrome determined by magnetic resonance imaging: estrogen deficiency associated with hepatic adipose content. J Clin Endocrinol Metab. 2005;90:2631–5.PubMedCrossRefGoogle Scholar
  20. Park E. Body shape in Turner’s syndrome. Human Biol. 1977;49(2):215–23.PubMedGoogle Scholar
  21. Ranke MB, Stubbe P, Majewski F, Bierich JR. Spontaneous growth in Turner’s syndrome. Acta Paediatr Scand. 1988;343(Suppl):22–30.Google Scholar
  22. Ranke MB, Lindberg A, Chatelain P, Wilton P, Cutfield W, Albertsson-Wikland K, Price DA. KIGS International Board. Kabi International Growth Study. ‘Prediction of long-term response to recombinant human growth hormone in Turner syndrome: development and validation of mathematical models. KIGS International Board. Kabi International Growth Study. J Clin Endocrinol Metab. 2000;85(11):4212–8.PubMedCrossRefGoogle Scholar
  23. Ranke MB, Partsch CJ, Lindberg A, Dorr HG, Bettendorf M, Hauffa BP, Schwarz HP, Mehls O, Sander S, Stahnke N, Steinkamp H, Said E, Sippel W. Adult height after GH therapy in 188 Ullrich-Turner syndrome patients: results of the German IGLU Follow-up Study 2001. Eur J Endocrinol. 2002;147(5):625–33.PubMedCrossRefGoogle Scholar
  24. Rongen Westerlaken C, B Rikken, P Vastrick, Jeuken AH, de Lange MY, Wit JM, van der Tweel I, Van den Brande L, The Dutch Growth Hormone Working Group. Pediatrics. 1993;152(10):813–7.Google Scholar
  25. Rongen Westerlaken C, Corel L, van der Broeck J, Massa G, Karlberg J, Albertsson Wikland K, Naeraa RW, Wit JM. Reference values for height, height velocity and weight in Turner’s syndrome. Swedish Study Group for GH treatment. Acta Paediatr. 1997;86(9):937–42.PubMedCrossRefGoogle Scholar
  26. Sybert VP. Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet. 2002;39(3):217–21.PubMedCrossRefGoogle Scholar
  27. Stephure DK. Canadian Growth Hormone Advisory Committee. Impact of Growth hormone supplementation on adult height in Turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005;90(6):3360–6.CrossRefGoogle Scholar
  28. Van Pareren YK, de Muink Keizer- Schrama SM, Stijnen T, Sass TC, Jansen M, Otten BJ, Hoorweg-Nijman JJ, Vulsma T, Stokvis-Brantsma WH, Rouwe CW, Reeser HM, Gerver WJ, Gosen JJ, Rongen-Westerlaken C, Drop SL. Final height in girls with Turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab. 2003;88(3):1119–25.PubMedCrossRefGoogle Scholar
  29. Varrela J, Vinkka H, Alvesalo L. The phenotype of 45,X females: an anthropometric quantification Ann Hum Biol. 1984;11(1):53–66.PubMedCrossRefGoogle Scholar
  30. Zinn AR, Vijay ST, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwarz S, Sybert VP, Van Dyke DL, Ross JL. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet. 1998;63:1757–66.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Pediatrics and EndocrinologyMedical University of WarsawWarsawPoland

Personalised recommendations