Skip to main content
SpringerLink
Log in

Turner Syndrome

  • Chapter
  • First Online:
Pediatric Endocrinology

Part of the book series: Contemporary Endocrinology ((COE))

  • 2830 Accesses

Abstract

Turner syndrome (TS) is one of the most common human chromosome anomalies. It occurs in approximately 1:2,000 female live births regardless of ethnic background. Girls with TS have an abnormal or missing X chromosome that causes short stature and may cause lymphedema, cardiac abnormalities, gonadal dysgenesis, dysmorphic features, nonverbal learning disabilities, and other problems.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87:81–3.

    PubMed  CAS  Google Scholar 

  2. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92:10–25.

    PubMed  CAS  Google Scholar 

  3. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.

    PubMed  CAS  Google Scholar 

  4. Gravholt CH. Epidemiology of Turner syndrome. Lancet Oncol. 2008;9:193–5.

    PubMed  Google Scholar 

  5. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet. 1983;64:24–7.

    PubMed  CAS  Google Scholar 

  6. Neely EK, Rosenfeld RG. Phenotypic correlations of X-chromosome loss. In: Wachtel SS, editor. Molecular genetics of sex determination. San Diego: Academic; 1994. p. 311–39.

    Google Scholar 

  7. Leonova J, Hanson C. A study of 45, X/46, XX mosaicism in Turner syndrome females: a novel primer pair for the (CAG)n repeat within the androgen receptor gene. Hereditas. 1999;131:87–92.

    PubMed  CAS  Google Scholar 

  8. Berletch JB, Yang F, Disteche CM. Escape from X inactivation in mice and humans. Genome Biol. 2010;11:213.

    PubMed  Google Scholar 

  9. Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005;434:400–4.

    PubMed  CAS  Google Scholar 

  10. Clement-Jones M, Schiller S, Rao E, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet. 2000;9:695–702.

    PubMed  CAS  Google Scholar 

  11. Marchini A, Rappold G, Schneider KU. SHOX at a glance: from gene to protein. Arch Physiol Biochem. 2007;113:116–23.

    PubMed  CAS  Google Scholar 

  12. Blaschke RJ, Rappold G. The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev. 2006;16:233–9.

    PubMed  CAS  Google Scholar 

  13. Marchini A, Hacker B, Marttila T, et al. BNP is a transcriptional target of the short stature homeobox gene SHOX. Hum Mol Genet. 2007;16: 3081–7.

    PubMed  CAS  Google Scholar 

  14. Blaschke RJ, Rappold GA. SHOX: growth, Leri-Weill and Turner syndromes. Trends Endocrinol Metab. 2000;11:227–30.

    PubMed  CAS  Google Scholar 

  15. Ellison JW, Wardak Z, Young MF, Gehron RP, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet. 1997;6:1341–7.

    PubMed  CAS  Google Scholar 

  16. Kajii T, Ferrier A, Niikawa N, et al. Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet. 1980;55:87–98.

    PubMed  CAS  Google Scholar 

  17. Barr Jr M, Oman-Ganes L. Turner syndrome morphology and morphometrics: cardiac hypoplasia as a cause of midgestation death. Teratology. 2002;66:65–72.

    PubMed  CAS  Google Scholar 

  18. Urbach A, Benvenisty N. Studying early lethality of 45, XO (Turner’s syndrome) embryos using human embryonic stem cells. PLoS One. 2009;4:e4175.

    PubMed  Google Scholar 

  19. Loscalzo ML, Van PL, Ho VB, et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics. 2005;115:732–5.

    PubMed  Google Scholar 

  20. Zinn AR, Roeltgen D, Stefanatos G, et al. A Turner syndrome neurocognitive phenotype maps to Xp22.3. J Soc Gynecol Investig. 2001;8:S34–6.

    PubMed  CAS  Google Scholar 

  21. Modi DN, Sane S, Bhartiya D. Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads. Mol Hum Reprod. 2003;9:219–25.

    PubMed  CAS  Google Scholar 

  22. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999;89: 186–200.

    PubMed  CAS  Google Scholar 

  23. Speed RM. Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma. 1986;94:115–24.

    PubMed  CAS  Google Scholar 

  24. Tsezou A, Hadjiathanasiou C, Gourgiotis D, et al. Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy. Clin Genet. 1999;56:441–6.

    PubMed  CAS  Google Scholar 

  25. Bondy CA, Matura LA, Wooten N, Troendle J, Zinn AR, Bakalov VK. The physical phenotype of girls and women with Turner syndrome is not X-imprinted. Hum Genet. 2007;121:469–74.

    PubMed  Google Scholar 

  26. Skuse DH, James RS, Bishop DV, et al. Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature. 1997;387:705–8.

    PubMed  CAS  Google Scholar 

  27. Ross J, Zinn A, McCauley E. Neurodevelopmental and psychosocial aspects of Turner syndrome. Ment Retard Dev Disabil Res Rev. 2000;6:135–41.

    PubMed  CAS  Google Scholar 

  28. Raefski AS, O’Neill MJ. Identification of a cluster of X-linked imprinted genes in mice. Nat Genet. 2005;37:620–4.

    PubMed  CAS  Google Scholar 

  29. Davies W, Isles A, Smith R, et al. Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice. Nat Genet. 2005;37:625–9.

    PubMed  CAS  Google Scholar 

  30. Migeon BR, Luo S, Stasiowski BA, et al. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Proc Natl Acad Sci U S A. 1993;90:12025–9.

    PubMed  CAS  Google Scholar 

  31. Turner C, Dennis NR, Skuse DH, Jacobs PA. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Hum Genet. 2000;106:93–100.

    PubMed  CAS  Google Scholar 

  32. Lippe BM, Saenger PH. Turner syndrome. In: Sperling MA, editor. Pediatric endocrinology. 2nd ed. Philadelphia, PA: Saunders; 2002. p. 519–64.

    Google Scholar 

  33. Massa GG, Vanderschueren-Lodeweyckx M. Age and height at diagnosis in Turner syndrome: influence of parental height. Pediatrics. 1991;88:1148–52.

    PubMed  CAS  Google Scholar 

  34. Savendahl L, Davenport ML. Delayed diagnoses of Turner’s syndrome: proposed guidelines for change. J Pediatr. 2000;137:455–9.

    PubMed  CAS  Google Scholar 

  35. Bekker MN, van den Akker NM, de Mooij YM, Bartelings MM, van Vugt JM, Gittenberger-de Groot AC. Jugular lymphatic maldevelopment in Turner syndrome and trisomy 21: different anomalies leading to nuchal edema. Reprod Sci. 2008;15:295–304.

    PubMed  Google Scholar 

  36. Bellini C, Di BE, Boccardo F, et al. The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. Lymphology. 2009;42:123–9.

    PubMed  CAS  Google Scholar 

  37. Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics. 1998; 101:E11.

    PubMed  CAS  Google Scholar 

  38. Mortensen KH, Hjerrild BE, Andersen NH, et al. Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging. Cardiol Young. 2010;20:191–200.

    PubMed  Google Scholar 

  39. Kim HK, Gottliebson W, Hor K, et al. Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population. AJR Am J Roentgenol. 2011;196:454–60.

    PubMed  Google Scholar 

  40. Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr. 1998;133:688–92.

    PubMed  CAS  Google Scholar 

  41. Gravholt CH, Landin-Wilhelmsen K, Stochholm K, et al. Clinical and epidemiological description of aortic dissection in Turner’s syndrome. Cardiol Young. 2006;16:430–6.

    PubMed  Google Scholar 

  42. Bordeleau L, Cwinn A, Turek M, Barron-Klauninger K, Victor G. Aortic dissection and Turner’s syndrome: case report and review of the literature. J Emerg Med. 1998;16:593–6.

    PubMed  CAS  Google Scholar 

  43. Lin AE, Lippe B, Rosenfeld RG. Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatrics. 1998; 102:e12.

    PubMed  CAS  Google Scholar 

  44. Elsheikh M, Casadei B, Conway GS, Wass JA. Hypertension is a major risk factor for aortic root dilatation in women with Turner’s syndrome. Clin Endocrinol (Oxf). 2001;54:69–73.

    CAS  Google Scholar 

  45. Nathwani NC, Unwin R, Brook CG, Hindmarsh PC. Blood pressure and Turner syndrome. Clin Endocrinol (Oxf). 2000;52:363–70.

    CAS  Google Scholar 

  46. Sybert VP. Adult height in Turner syndrome with and without androgen therapy. J Pediatr. 1984;104: 365–9.

    PubMed  CAS  Google Scholar 

  47. Ranke MB, Pfluger H, Rosendahl W, et al. Turner syndrome: spontaneous growth in 150 cases and review of the literature. Eur J Pediatr. 1983;141: 81–8.

    PubMed  CAS  Google Scholar 

  48. Rochiccioli P, David M, Malpuech G, et al. Study of final height in Turner’s syndrome: ethnic and genetic influences. Acta Paediatr. 1994;83:305–8.

    PubMed  CAS  Google Scholar 

  49. Even L, Cohen A, Marbach N, et al. Longitudinal analysis of growth over the first 3 years of life in Turner’s syndrome. J Pediatr. 2000;137:460–4.

    PubMed  CAS  Google Scholar 

  50. Davenport ML, Punyasavatsut N, Gunther D, Savendahl L, Stewart PW. Turner syndrome: a pattern of early growth failure. Acta Paediatr Suppl. 1999;88:118–21.

    PubMed  CAS  Google Scholar 

  51. Karlberg J, Albertsson-Wikland K, Nilsson KO, Ritzen EM, Westphal O. Growth in infancy and childhood in girls with Turner’s syndrome. Acta Paediatr Scand. 1991;80:1158–65.

    PubMed  CAS  Google Scholar 

  52. Mathisen B, Reilly S, Skuse D. Oral-motor ­dysfunction and feeding disorders of infants with Turner syndrome. Dev Med Child Neurol. 1992;34: 141–9.

    PubMed  CAS  Google Scholar 

  53. Perkiomaki MR, Alvesalo L. Palatine ridges and tongue position in Turner syndrome subjects. Eur J Orthod. 2008;30:163–8.

    PubMed  Google Scholar 

  54. Gravholt CH, Weis NR. Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome. Am J Med Genet. 1997;72:403–8.

    PubMed  CAS  Google Scholar 

  55. Elder DA, Roper MG, Henderson RC, Davenport ML. Kyphosis in a Turner syndrome population. Pediatrics. 2002;109:e93.

    PubMed  Google Scholar 

  56. Even L, Bronstein V, Hochberg Z. Bone maturation in girls with Turner’s syndrome. Eur J Endocrinol. 1998;138:59–62.

    PubMed  CAS  Google Scholar 

  57. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol. 1998;51:147–58.

    PubMed  CAS  Google Scholar 

  58. Bakalov VK, Axelrod L, Baron J, et al. Selective reduction in cortical bone mineral density in Turner syndrome independent of ovarian hormone deficiency. J Clin Endocrinol Metab. 2003;88: 5717–22.

    PubMed  CAS  Google Scholar 

  59. Bakalov VK, Bondy CA. Fracture risk and bone mineral density in Turner syndrome. Rev Endocr Metab Disord. 2008;9:145–51.

    PubMed  Google Scholar 

  60. Rongen-Westerlaken C, Van Den Born E, Prahl-Andersen B, et al. Shape of the craniofacial complex in children with Turner syndrome. J Biol Buccale. 1992;20:185–90.

    PubMed  CAS  Google Scholar 

  61. Laine T, Alvesalo L. Size of the alveolar arch of the mandible in relation to that of the maxilla in 45, X females. J Dent Res. 1986;65:1432–4.

    PubMed  CAS  Google Scholar 

  62. Midtbo M, Halse A. Skeletal maturity, dental maturity, and eruption in young patients with Turner syndrome. Acta Odontol Scand. 1992;50:303–12.

    PubMed  CAS  Google Scholar 

  63. Szilagyi A, Keszthelyi G, Nagy G, Madlena M. Oral manifestations of patients with Turner syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;89:577–84.

    PubMed  CAS  Google Scholar 

  64. Faggella A, Guadagni MG, Cocchi S, Tagariello T, Piana G. Dental features in patients with Turner syndrome. Eur J Paediatr Dent. 2006;7:165–8.

    PubMed  CAS  Google Scholar 

  65. Townsend G, Jensen BL, Alvesalo L. Reduced tooth size in 45, X (Turner syndrome) females. Am J Phys Anthropol. 1984;65:367–71.

    PubMed  CAS  Google Scholar 

  66. Sculerati N, Ledesma-Medina J, Finegold DN, Stool SE. Otitis media and hearing loss in Turner syndrome. Arch Otolaryngol Head Neck Surg. 1990;116:704–7.

    PubMed  CAS  Google Scholar 

  67. Stenberg AE, Nylen O, Windh M, Hultcrantz M. Otological problems in children with Turner’s syndrome. Hear Res. 1998;124:85–90.

    PubMed  CAS  Google Scholar 

  68. Hederstierna C, Hultcrantz M, Rosenhall U. A longitudinal study of hearing decline in women with Turner syndrome. Acta Otolaryngol. 2009;129:1434–41.

    PubMed  Google Scholar 

  69. Roush J, Davenport ML, Carlson-Smith C. Early-onset sensorineural hearing loss in a child with Turner syndrome. J Am Acad Audiol. 2000;11:446–53.

    PubMed  CAS  Google Scholar 

  70. Gungor N, Boke B, Belgin E, Tuncbilek E. High frequency hearing loss in Ullrich-Turner syndrome. Eur J Pediatr. 2000;159:740–4.

    PubMed  CAS  Google Scholar 

  71. Chrousos GA, Ross JL, Chrousos G, et al. Ocular findings in Turner syndrome. A prospective study. Ophthalmology. 1984;91:926–8.

    PubMed  CAS  Google Scholar 

  72. Denniston AK, Butler L. Ophthalmic features of Turner’s syndrome. Eye (Lond). 2004;18:680–4.

    CAS  Google Scholar 

  73. Lloyd IC, Haigh PM, Clayton-Smith J, et al. Anterior segment dysgenesis in mosaic Turner syndrome. Br J Ophthalmol. 1997;81:639–43.

    PubMed  CAS  Google Scholar 

  74. Bilge I, Kayserili H, Emre S, et al. Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children. Pediatr Nephrol. 2000;14:1111–4.

    PubMed  CAS  Google Scholar 

  75. Lippe B, Geffner ME, Dietrich RB, Boechat MI, Kangarloo H. Renal malformations in patients with Turner syndrome: imaging in 141 patients. Pediatrics. 1988;82:852–6.

    PubMed  CAS  Google Scholar 

  76. El-Mansoury M, Berntorp K, Bryman I, et al. Elevated liver enzymes in Turner syndrome during a 5-year follow-up study. Clin Endocrinol (Oxf). 2008;68:485–90.

    CAS  Google Scholar 

  77. Roulot D, Degott C, Chazouilleres O, et al. Vascular involvement of the liver in Turner’s syndrome. Hepatology. 2004;39:239–47.

    PubMed  Google Scholar 

  78. Larizza D, Locatelli M, Vitali L, et al. Serum liver enzymes in Turner syndrome. Eur J Pediatr. 2000;159:143–8.

    PubMed  CAS  Google Scholar 

  79. Bonamico M, Bottaro G, Pasquino AM, et al. Celiac disease and Turner syndrome. J Pediatr Gastroenterol Nutr. 1998;26:496–9.

    PubMed  CAS  Google Scholar 

  80. Keating JP, Ternberg JL, Packman R. Association of Crohn disease and Turner syndrome. J Pediatr. 1978;92:160–1.

    PubMed  CAS  Google Scholar 

  81. Weiss SW. Pedal hemangioma (venous malformation) occurring in Turner’s syndrome: an additional manifestation of the syndrome. Hum Pathol. 1988;19:1015–8.

    PubMed  CAS  Google Scholar 

  82. Eroglu Y, Emerick KM, Chou PM, Reynolds M. Gastrointestinal bleeding in Turner’s syndrome: a case report and literature review. J Pediatr Gastroenterol Nutr. 2002;35:84–7.

    PubMed  Google Scholar 

  83. Becker B, Jospe N, Goldsmith LA. Melanocytic nevi in Turner syndrome. Pediatr Dermatol. 1994;11:120–4.

    PubMed  CAS  Google Scholar 

  84. Wyatt D. Melanocytic nevi in children treated with growth hormone. Pediatrics. 1999;104:1045–50.

    PubMed  CAS  Google Scholar 

  85. Zvulunov A, Wyatt DT, Laud PW, Esterly NB. Influence of genetic and environmental factors on melanocytic naevi: a lesson from Turner’s syndrome. Br J Dermatol. 1998;138:993–7.

    PubMed  CAS  Google Scholar 

  86. Gibbs P, Brady BM, Gonzalez R, Robinson WA. Nevi and melanoma: lessons from Turner’s syndrome. Dermatology. 2001;202:1–3.

    PubMed  CAS  Google Scholar 

  87. Noguchi H, Kayashima K, Nishiyama S, Ono T. Two cases of pilomatrixoma in Turner’s syndrome. Dermatology. 1999;199:338–40.

    PubMed  CAS  Google Scholar 

  88. Lowenstein EJ, Kim KH, Glick SA. Turner’s syndrome in dermatology. J Am Acad Dermatol. 2004;50:767–76.

    PubMed  Google Scholar 

  89. Larralde M, Gardner SS, Torrado MV, et al. Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome. Pediatr Dermatol. 1998;15:18–22.

    PubMed  CAS  Google Scholar 

  90. Larizza D, Calcaterra V, Martinetti M. Autoimmune stigmata in Turner syndrome: when lacks an X chromosome. J Autoimmun. 2009;33:25–30.

    PubMed  CAS  Google Scholar 

  91. Hayward PA, Satsangi J, Jewell DP. Inflammatory bowel disease and the X chromosome. QJM. 1996;89:713–8.

    PubMed  CAS  Google Scholar 

  92. Medeiros CC, Marini SH, Baptista MT, Guerra Jr G, Maciel-Guerra AT. Turner’s syndrome and thyroid disease: a transverse study of pediatric patients in Brazil. J Pediatr Endocrinol Metab. 2000;13:357–62.

    PubMed  CAS  Google Scholar 

  93. Mortensen KH, Cleemann L, Hjerrild BE, et al. Increased prevalence of autoimmunity in Turner syndrome—influence of age. Clin Exp Immunol. 2009;156:205–10.

    PubMed  CAS  Google Scholar 

  94. Zulian F, Schumacher HR, Calore A, Goldsmith DP, Athreya BH. Juvenile arthritis in Turner’s syndrome: a multicenter study. Clin Exp Rheumatol. 1998;16:489–94.

    PubMed  CAS  Google Scholar 

  95. Blackett PR, Rundle AC, Frane J, Blethen SL. Body mass index (BMI) in Turner Syndrome before and during growth hormone (GH) therapy. Int J Obes Relat Metab Disord. 2000;24:232–5.

    PubMed  CAS  Google Scholar 

  96. Caprio S, Boulware S, Diamond M, et al. Insulin resistance: an early metabolic defect of Turner’s syndrome. J Clin Endocrinol Metab. 1991;72:832–6.

    PubMed  CAS  Google Scholar 

  97. Gravholt CH, Naeraa RW, Nyholm B, et al. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner’s syndrome. The impact of sex hormone replacement. Diabetes Care. 1998;21:1062–70.

    PubMed  CAS  Google Scholar 

  98. Bakalov VK, Cooley MM, Quon MJ, et al. Impaired insulin secretion in the Turner metabolic syndrome. J Clin Endocrinol Metab. 2004;89:3516–20.

    PubMed  CAS  Google Scholar 

  99. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J Clin Endocrinol Metab. 1997;82: 1810–3.

    PubMed  CAS  Google Scholar 

  100. Crosignani PG, Rubin BL. Optimal use of infertility diagnostic tests and treatments. The ESHRE Capri Workshop Group. Hum Reprod. 2000;15:723–32.

    PubMed  CAS  Google Scholar 

  101. Tarani L, Lampariello S, Raguso G, et al. Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. Gynecol Endocrinol. 1998;12:83–7.

    PubMed  CAS  Google Scholar 

  102. Conte FA, Grumbach MM, Kaplan SL. A diphasic pattern of gonadotropin secretion in patients with the syndrome of gonadal dysgenesis. J Clin Endocrinol Metab. 1975;40:670–4.

    PubMed  CAS  Google Scholar 

  103. Chrysis D, Spiliotis BE, Stene M, Cacciari E, Davenport ML. Gonadotropin secretion in girls with turner syndrome measured by an ultrasensitive immunochemiluminometric assay. Horm Res. 2006;65:261–6.

    PubMed  CAS  Google Scholar 

  104. Gravholt CH, Naeraa RW, Andersson AM, Christiansen JS, Skakkebaek NE. Inhibin A and B in adolescents and young adults with Turner’s syndrome and no sign of spontaneous puberty. Hum Reprod. 2002;17:2049–53.

    PubMed  CAS  Google Scholar 

  105. Wilson CA, Heinrichs C, Larmore KA, et al. Estradiol levels in girls with Turner’s syndrome compared to normal prepubertal girls as determined by an ultrasensitive assay. J Pediatr Endocrinol Metab. 2003;16:91–6.

    PubMed  Google Scholar 

  106. Sehested A, Juul AA, Andersson AM, et al. Serum inhibin A and inhibin B in healthy prepubertal, pubertal, and adolescent girls and adult women: relation to age, stage of puberty, menstrual cycle, follicle-stimulating hormone, luteinizing hormone, and estradiol levels. J Clin Endocrinol Metab. 2000;85:1634–40.

    PubMed  CAS  Google Scholar 

  107. Chellakooty M, Schmidt IM, Haavisto AM, et al. Inhibin A, inhibin B, follicle-stimulating hormone, luteinizing hormone, estradiol, and sex hormone-binding globulin levels in 473 healthy infant girls. J Clin Endocrinol Metab. 2003;88:3515–20.

    PubMed  CAS  Google Scholar 

  108. Hagen CP, Aksglaede L, Sorensen K, et al. Serum levels of anti-Mullerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J Clin Endocrinol Metab. 2010;95:5003–10.

    PubMed  CAS  Google Scholar 

  109. Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005;139A:57–66.

    PubMed  Google Scholar 

  110. Oktay K, Rodriguez-Wallberg KA, Sahin G. Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure. Fertil Steril. 2010;94:753–9.

    PubMed  Google Scholar 

  111. Brant WO, Rajimwale A, Lovell MA, et al. Gonadoblastoma and Turner syndrome. J Urol. 2006;175:1858–60.

    PubMed  Google Scholar 

  112. Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev. 2006;27:468–84.

    PubMed  CAS  Google Scholar 

  113. 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;85:3199–202.

    PubMed  CAS  Google Scholar 

  114. Rovet J. Turner syndrome: a review of genetic and hormonal influences on neuropsychological functioning. Neuropsychol Dev Cogn C Child Neuropsychol. 2004;10:262–79.

    Google Scholar 

  115. Ross J, Roeltgen D, Zinn A. Cognition and the sex chromosomes: studies in Turner syndrome. Horm Res. 2006;65:47–56.

    PubMed  CAS  Google Scholar 

  116. Kesler SR. Turner syndrome. Child Adolesc Psychiatr Clin N Am. 2007;16:709–22.

    PubMed  Google Scholar 

  117. Rovet JF. The cognitive and neuropsychological characteristics of females with Turner Syndrome. In: Berch DB, Berger BG, editors. Sex chromosome abnormalities and human behavior. Boulder, CO: Western Press; 1990. p. 38–77.

    Google Scholar 

  118. Rovet JF. The psychoeducational characteristics of children with Turner syndrome. J Learn Disabil. 1993;26:333–41.

    PubMed  CAS  Google Scholar 

  119. Mazzocco MM. A process approach to describing mathematics difficulties in girls with Turner syndrome. Pediatrics. 1998;102:492–6.

    PubMed  CAS  Google Scholar 

  120. El Abd S, Patton MA, Turk J, Hoey H, Howlin P. Social, communicational, and behavioral deficits associated with ring X turner syndrome. Am J Med Genet. 1999;88:510–6.

    PubMed  CAS  Google Scholar 

  121. Donnelly SL, Wolpert CM, Menold MM, et al. Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. Am J Med Genet. 2000;96:312–6.

    PubMed  CAS  Google Scholar 

  122. Blatt J, Olshan AF, Lee PA, Ross JL. Neuroblastoma and related tumors in Turner’s syndrome. J Pediatr. 1997;131:666–70.

    PubMed  CAS  Google Scholar 

  123. Wolff DJ, Van Dyke DL, Powell CM. Laboratory guideline for Turner syndrome. Genet Med. 2010;12:52–5.

    PubMed  Google Scholar 

  124. Gicquel C, Gaston V, Cabrol S, Le BY. Assessment of Turner’s syndrome by molecular analysis of the X chromosome in growth-retarded girls. J Clin Endocrinol Metab. 1998;83:1472–6.

    PubMed  CAS  Google Scholar 

  125. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95: 1487–95.

    PubMed  CAS  Google Scholar 

  126. Davenport ML. Turner syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes. 3rd ed. Hoboken: Wiley; 2010. p. 847–69.

    Google Scholar 

  127. Lerner R. What’s new in lymphedema therapy in America? Int J Angiol. 1998;7:191–6.

    PubMed  Google Scholar 

  128. Bernas MJ, Witte CL, Witte MH. The diagnosis and treatment of peripheral lymphedema: draft revision of the 1995 Consensus Document of the International Society of Lymphology Executive Committee for discussion at the September 3-7, 2001, XVIII International Congress of Lymphology in Genoa, Italy. Lymphology. 2001;34:84–91.

    PubMed  CAS  Google Scholar 

  129. Thomson SJ, Tanner NS, Mercer DM. Web neck deformity; anatomical considerations and options in surgical management. Br J Plast Surg. 1990;43:94–100.

    PubMed  CAS  Google Scholar 

  130. The Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril. 2005;83:1074–5.

    Google Scholar 

  131. Davenport ML, Punyasavatsut N, Stewart PW, Gunther DF, Savendahl L, Sybert VP. Growth failure in early life: an important manifestation of Turner syndrome. Horm Res. 2002;57:157–64.

    PubMed  CAS  Google Scholar 

  132. Rongen-Westerlaken C, Corel L, Van den Broeck J, et al. Reference values for height, height velocity and weight in Turner’s syndrome. Swedish Study Group for GH treatment. Acta Paediatr. 1997;86: 937–42.

    PubMed  CAS  Google Scholar 

  133. Lyon AJ, Preece MA, Grant DB. Growth curve for girls with Turner syndrome. Arch Dis Child. 1985;60:932–5.

    PubMed  CAS  Google Scholar 

  134. Saenger P. Growth-promoting strategies in Turner’s syndrome. J Clin Endocrinol Metab. 1999;84:4345–8.

    PubMed  CAS  Google Scholar 

  135. van Pareren YK, Duivenvoorden HJ, Slijper FM, Koot HM, Drop SL, de Muinck Keizer-Schrama SM. Psychosocial functioning after discontinuation of long-term growth hormone treatment in girls with Turner syndrome. Horm Res. 2005;63:238–44.

    PubMed  Google Scholar 

  136. 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;90:3360–6.

    PubMed  Google Scholar 

  137. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. N Engl J Med. 2011;364:1230–42.

    PubMed  CAS  Google Scholar 

  138. Menke LA, Sas TC, de Muinck Keizer-Schrama SM, et al. Efficacy and safety of oxandrolone in growth hormone-treated girls with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1151–60.

    PubMed  CAS  Google Scholar 

  139. Zeger MP, Shah K, Kowal K, Cutler Jr GB, Kushner H, Ross JL. Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with Turner syndrome. Horm Res Paediatr. 2011;75:38–46.

    PubMed  CAS  Google Scholar 

  140. Carel JC, Mathivon L, Gendrel C, Chaussain JL. Growth hormone therapy for Turner syndrome: evidence for benefit. Horm Res. 1997;48 Suppl 5:31–4.

    PubMed  CAS  Google Scholar 

  141. Donaldson MD. Growth hormone therapy in Turner syndrome—current uncertainties and future strategies. Horm Res. 1997;48 Suppl 5:35–44.

    PubMed  CAS  Google Scholar 

  142. Haeusler G, Schmitt K, Blumel P, Plochl E, Waldhor T, Frisch H. Growth hormone in combination with anabolic steroids in patients with Turner syndrome: effect on bone maturation and final height. Acta Paediatr. 1996;85:1408–14.

    PubMed  CAS  Google Scholar 

  143. Ranke MB, Lindberg A, Ferrandez LA, et al. Major determinants of height development in Turner ­syndrome (TS) patients treated with GH: analysis of 987 patients from KIGS. Pediatr Res. 2007;61:105–10.

    PubMed  CAS  Google Scholar 

  144. Sas TC, de Muinck Keizer-Schrama SM, Stijnen T, et al. Normalization of height in girls with Turner syndrome after long-term growth hormone treatment: results of a randomized dose-response trial. J Clin Endocrinol Metab. 1999;84:4607–12.

    PubMed  CAS  Google Scholar 

  145. Davenport ML, Crowe BJ, Travers SH, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007;92:3406–16.

    PubMed  CAS  Google Scholar 

  146. Reiter EO, Attie KM, Moshang Jr T, et al. A multicenter study of the efficacy and safety of sustained release GH in the treatment of naive pediatric patients with GH deficiency. J Clin Endocrinol Metab. 2001;86:4700–6.

    PubMed  CAS  Google Scholar 

  147. Carel JC, Ecosse E, Bastie-Sigeac I, et al. Quality of life determinants in young women with turner’s syndrome after growth hormone treatment: results of the StaTur population-based cohort study. J Clin Endocrinol Metab. 2005;90:1992–7.

    PubMed  CAS  Google Scholar 

  148. Carel JC, Mathivon L, Gendrel C, Ducret JP, Chaussain JL. Near normalization of final height with adapted doses of growth hormone in Turner’s syndrome. J Clin Endocrinol Metab. 1998;83:1462–6.

    PubMed  CAS  Google Scholar 

  149. Rosenfeld RG, Frane J, Attie KM, et al. Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome. J Pediatr. 1992;121:49–55.

    PubMed  CAS  Google Scholar 

  150. Chernausek SD, Attie KM, Cara JF, Rosenfeld RG, Frane J. Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group. J Clin Endocrinol Metab. 2000;85:2439–45.

    PubMed  CAS  Google Scholar 

  151. van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, et al. 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;88:1119–25.

    PubMed  Google Scholar 

  152. Rosenfield RL, Devine N, Hunold JJ, Mauras N, Moshang Jr T, Root AW. Salutary effects of combining early very low-dose systemic estradiol with growth hormone therapy in girls with Turner syndrome. J Clin Endocrinol Metab. 2005;90:6424–30.

    PubMed  CAS  Google Scholar 

  153. Sas TC, Gerver WJ, de Bruin R, et al. Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial. J Clin Endocrinol Metab. 1999;84:4622–8.

    PubMed  CAS  Google Scholar 

  154. Sato N, Nimura A, Horikawa R, Katumata N, Tanae A, Tanaka T. Bone mineral density in Turner syndrome: relation to GH treatment and estrogen treatment. Endocr J. 2000;47(Suppl):S115–9.

    PubMed  CAS  Google Scholar 

  155. Rubin K. Turner syndrome and osteoporosis: mechanisms and prognosis. Pediatrics. 1998; 102(2Pt3): 481–5.

    PubMed  CAS  Google Scholar 

  156. Hass AD, Simmons KE, Davenport ML, Proffit WR. The effect of growth hormone on craniofacial growth and dental maturation in Turner syndrome. Angle Orthod. 2001;71:50–9.

    PubMed  CAS  Google Scholar 

  157. Rongen-Westerlaken C, Van Den Born E, Prahl-Andersen B, et al. Effect of growth hormone treatment on craniofacial growth in Turner’s syndrome. Acta Paediatr. 1993;82:364–8.

    PubMed  CAS  Google Scholar 

  158. Ross JL, Feuillan P, Kushner H, Roeltgen D, Cutler Jr GB. Absence of growth hormone effects on cognitive function in girls with Turner syndrome. J Clin Endocrinol Metab. 1997;82:1814–7.

    PubMed  CAS  Google Scholar 

  159. Huisman J, Slijper FM, Sinnema G, et al. Psychosocial effects of two years of human growth hormone treatment in Turner syndrome. The Dutch Working Group: Psychologists and Growth Hormone. Horm Res. 1993;39 Suppl 2:56–9.

    PubMed  Google Scholar 

  160. Siegel PT, Clopper R, Stabler B. The psychological consequences of Turner syndrome and review of the National Cooperative Growth Study psychological substudy. Pediatrics. 1998;102:488–91.

    PubMed  CAS  Google Scholar 

  161. Rovet J, Holland J. Psychological aspects of the Canadian randomized controlled trial of human growth hormone and low-dose ethinyl oestradiol in children with Turner syndrome. The Canadian Growth Hormone Advisory Group. Horm Res. 1993;39 Suppl 2:60–4.

    PubMed  Google Scholar 

  162. Amundson E, Boman UW, Barrenas ML, Bryman I, Landin-Wilhelmsen K. Impact of growth hormone therapy on quality of life in adults with turner syndrome. J Clin Endocrinol Metab. 2010;95:1355–9.

    PubMed  CAS  Google Scholar 

  163. Bolar K, Hoffman AR, Maneatis T, Lippe B. Long-term safety of recombinant human growth hormone in turner syndrome. J Clin Endocrinol Metab. 2008;93:344–51.

    PubMed  CAS  Google Scholar 

  164. Matura LA, Sachdev V, Bakalov VK, Rosing DR, Bondy CA. Growth hormone treatment and left ventricular dimensions in Turner syndrome. J Pediatr. 2007;150:587–91.

    PubMed  CAS  Google Scholar 

  165. van den Berg J, Bannink EM, Wielopolski PA, et al. Cardiac status after childhood growth hormone treatment of Turner syndrome. J Clin Endocrinol Metab. 2008;93:2553–8.

    PubMed  Google Scholar 

  166. Joss EE, Zurbrugg RP, Tonz O, Mullis PE. Effect of growth hormone and oxandrolone treatment on glucose metabolism in Turner syndrome. A longitudinal study. Horm Res. 2000;53:1–8.

    PubMed  CAS  Google Scholar 

  167. Saenger P. Metabolic consequences of growth hormone treatment in paediatric practice. Horm Res. 2000;53 Suppl 1:60–9.

    PubMed  CAS  Google Scholar 

  168. Sas T, de Muinck Keizer-Schrama S, Aanstoot HJ, Stijnen T, Drop S. Carbohydrate metabolism during growth hormone treatment and after discontinuation of growth hormone treatment in girls with Turner syndrome treated with once or twice daily growth hormone injections. Clin Endocrinol (Oxf). 2000;52:741–7.

    CAS  Google Scholar 

  169. Wooten N, Bakalov VK, Hill S, Bondy CA. Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome. J Clin Endocrinol Metab. 2008;93:2109–14.

    PubMed  CAS  Google Scholar 

  170. Rosenfeld RG, Hintz RL, Johanson AJ, et al. Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome. J Pediatr. 1988;113:393–400.

    PubMed  CAS  Google Scholar 

  171. Cavallo L, Gurrado R. Endogenous growth hormone secretion does not correlate with growth in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome. J Pediatr Endocrinol Metab. 1999;12:623–7.

    PubMed  CAS  Google Scholar 

  172. Sas TC, de Muinck Keizer-Schrama SM, Stijnen T, et al. Final height in girls with Turner’s syndrome treated with once or twice daily growth hormone injections. Dutch Advisory Group on Growth Hormone. Arch Dis Child. 1999;80:36–41.

    PubMed  CAS  Google Scholar 

  173. Stool SE, Berg AO, Berman S et al. Quick reference guide for clinicans, managing otitis media with effusion in young children. Quick Reference Guide for Clinicans. AHCPR Publication No 94-0623 1994

    Google Scholar 

  174. Courant F, Aksglaede L, Antignac JP, et al. Assessment of circulating sex steroid levels in prepubertal and pubertal boys and girls by a novel ultrasensitive gas chromatography-tandem mass spectrometry method. J Clin Endocrinol Metab. 2010;95:82–92.

    PubMed  CAS  Google Scholar 

  175. Ankarberg-Lindgren C, Elfving M, Wikland KA, Norjavaara E. Nocturnal application of transdermal estradiol patches produces levels of estradiol that mimic those seen at the onset of spontaneous puberty in girls. J Clin Endocrinol Metab. 2001;86: 3039–44.

    PubMed  CAS  Google Scholar 

  176. Kuhl H. Pharmacology of estrogens and progestogens: influence of different routes of administration. Climacteric. 2005;8 Suppl 1:3–63.

    PubMed  CAS  Google Scholar 

  177. Mauras N, Shulman D, Hsiang HY, Balagopal P, Welch S. Metabolic effects of oral versus transdermal estrogen in growth hormone-treated girls with turner syndrome. J Clin Endocrinol Metab. 2007;92: 4154–60.

    PubMed  CAS  Google Scholar 

  178. Nabhan ZM, Dimeglio LA, Qi R, Perkins SM, Eugster EA. Conjugated oral versus transdermal estrogen replacement in girls with Turner syndrome: a pilot comparative study. J Clin Endocrinol Metab. 2009;94:2009–14.

    PubMed  CAS  Google Scholar 

  179. Rosenfield RL, Perovic N, Devine N. Optimiz­ing estrogen replacement in adolescents with Turner syndrome. Ann N Y Acad Sci. 2000;900: 213–4.

    PubMed  CAS  Google Scholar 

  180. Zuckerman-Levin N, Frolova-Bishara T, Militianu D, Levin M, Aharon-Peretz J, Hochberg Z. Androgen replacement therapy in Turner syndrome: a pilot study. J Clin Endocrinol Metab. 2009;94: 4820–7.

    PubMed  CAS  Google Scholar 

  181. Damiani D, Guedes DR, Fellous M, et al. Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments. J Pediatr Endocrinol Metab. 1999;12:827–31.

    PubMed  CAS  Google Scholar 

  182. Foudila T, Soderstrom-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod. 1999;14:532–5.

    PubMed  CAS  Google Scholar 

  183. Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben RZ. Turner’s syndrome and fertility: current status and possible putative prospects. Hum Reprod Update. 2001;7:603–10.

    PubMed  CAS  Google Scholar 

  184. Boissonnas CC, Davy C, Bornes M, et al. Careful cardiovascular screening and follow-up of women with Turner syndrome before and during pregnancy is necessary to prevent maternal mortality. Fertil Steril. 2009;91:929.

    PubMed  Google Scholar 

  185. Silberbach M. Susceptibility to aortic dissection in Turner Syndrome pregnancy: inadequacy of the ASRM Practice Committee Report. Fertil Steril. 2009;91:e33.

    PubMed  Google Scholar 

  186. Boman UW, Moller A, Albertsson-Wikland K. Psychological aspects of Turner syndrome. J Psychosom Obstet Gynaecol. 1998;19:1–18.

    PubMed  CAS  Google Scholar 

  187. Ross JL, Roeltgen D, Kushner H, Wei F, Zinn AR. The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. Am J Hum Genet. 2000;67:672–81.

    PubMed  CAS  Google Scholar 

  188. Davenport ML, Calikoglu AS. Turner syndrome. In: Pescovitz OH, Eugster EA, editors. Pediatric endocrinology: mechanisms, manifestations, and management. Philadelphia, PA: Lippincott Williams & Wilkins; 2004. p. 203–23.

    Google Scholar 

  189. Russell KA. Orthodontic treatment for patients with Turner Syndrome. Am J Orthod Dentofacial Orthop. 2001. 120 (3): 314-22.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Pediatric Endocrinology, University of North Carolina, 3341 MBRB, CB #7039, 111 Mason Farm Road, Chapel Hill, NC, 27599-7039, USA

    Marsha L. Davenport M.D.

  2. Division of Pediatric Endocrinology, Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA

    Judith Ross M.D.

  3. Department of Endocrinology, Cincinnati Children’s Hospital, Cincinnati, OH, USA

    Phillippe F. Backeljauw M.D.

Authors
  1. Marsha L. Davenport M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Judith Ross M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Phillippe F. Backeljauw M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Marsha L. Davenport M.D. .

Editor information

Editors and Affiliations

  1. School of Medicine, Department of Pediatrics, The Johns Hopkins University, 600 North Wolfe St., Baltimore, 21287, Maryland, USA

    Sally Radovick

  2. , Department of Pediatrics, Children's Hospital of Buffalo, 219 Bryant St., Buffalo, 14222, New York, USA

    Margaret H. MacGillivray

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer Science+Business Media New York

About this chapter

Cite this chapter

Davenport, M.L., Ross, J., Backeljauw, P.F. (2013). Turner Syndrome. In: Radovick, S., MacGillivray, M. (eds) Pediatric Endocrinology. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-395-4_7

Download citation

  • DOI: https://doi.org/10.1007/978-1-60761-395-4_7

  • Published:

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-60761-394-7

  • Online ISBN: 978-1-60761-395-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation