Turner syndrome - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Turner syndrome has characteristic clinical features which include short stature and premature ovarian failure in a phenotypic female.
Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients.
Recent studies show that complex epigenetic factors and gene-gene interactions contribute to this specific phenotype.
Intelligence is normal, with verbal skills generally greater than performance or visual-spatial skills.

Classic stigmata of Turner syndrome

From Ullrich O. Eur J Pediatr. 1930;49:271-276; used with permission

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Definition

Epidemiology

Etiology

Pathophysiology

Images

X chromosome abnormalities in Turner syndrome; see text for explanation
Ascertainment profile data of Turner syndrome; 300 females; Age DX, age (in years) at diagnosis
Pseudoautosomal regions of X and Y chromosomes
Ascertainment profile data of Turner syndrome; 300 females; Age DX, age (in years) at diagnosis
Pathognomonic features of Turner syndrome
Association of cardiovascular defects with neck webbing
Comorbidities and complications in girls with Turner syndrome; diagnosis of congenital heart defects was made by echocardiogram and cardiac magnetic resonance angiography; renal and hepatic imaging was done by ultrasound; hypertension was determined by ambulatory BP monitoring using height-based standards; *includes partial anomalous pulmonary venous return, elongated transverse arch of the aorta, right aortic arch; ** >10% elevation of ALT and/or AST
Cardiac MRI revealing normal aortic arch in "candy cane" configuration on the left, compared with a previously undiagnosed aortic coarctation, just after the origin of the left subclavian artery (arrow), detected by MRI in an adult woman with Turner syndrome with severe upper body hypertension
Algorithm for screening and monitoring congenital cardiovascular disease in Turner syndrome in girls aged <15 years
Algorithm for screening and monitoring congenital cardiovascular disease in Turner syndrome in women and girls aged >15 years. (CHD, congenital heart disease; AV, aortic valve; BAV, bicuspid aortic valve; PAPV, partial anomalous pulmonary veins; Coarc, coarctation; ACH, adult congenital heart; CVS, cardiovascular system; HTN, hypertension)
Classic stigmata of Turner syndrome
Incidence of adverse effects of GH treatment
Importance of estrogen therapy in young adults with Turner syndrome (TS): X-ray figure A shows near collapse of T11, diffuse osteoporosis, and dorsal kyphosis in a woman with TS who discontinued HRT at age 18 years. Figure B shows normal spinal architecture and bone health in another woman with TS, age 30 years, who has taken HRT consistently since age 12.8 years

Citations

Key Articles

Gravholt CH, Andersen NH, Conway GS; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177:G1-G70.[Abstract][Full Text]
Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261.[Abstract]
Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.[Abstract][Full Text]
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;90:3360-3366.[Abstract][Full Text]
Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.[Abstract][Full Text]

Referenced Articles

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15. Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261.[Abstract]
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23. Prakash S, Guo D, Maslen CL, et al. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014;16:53-59.[Abstract]
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28. Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.[Abstract][Full Text]
29. Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012;97:E994-E1003.[Abstract]
30. Quigley CA, Fechner PY, Geffner ME, et al. Prevention of growth failure in Turner syndrome: long-term results of early growth hormone treatment in the "Toddler Turner" cohort. Horm Res Paediatr. 2021;94(1-2):18-35.[Abstract][Full Text]
31. 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;90:3360-3366.[Abstract][Full Text]
32. 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;88:1119-1125.[Abstract][Full Text]
33. Bolar K, Hoffman AR, Maneatis T, et al. Long-term safety of recombinant human growth hormone in Turner syndrome. J Clin Endocrinol Metab. 2008;93:344-351.[Abstract][Full Text]
34. Rosenfeld RG, Attie KM, Frane J, et al. Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr. 1998;132:319-324.[Abstract]
35. Zeger MP, Shah K, Kowal K, et al. Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with Turner syndrome. Horm Res Paediatr. 2011;75:38-46.[Abstract]
36. 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;95:1151-1160.[Abstract]
37. Mohamed S, Alkofide H, Adi YA, et al. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. Cochrane Database Syst Rev. 2019 Oct 30;2019(10):.[Abstract][Full Text]
38. American College of Obstetricians and Gynecologists. ACOG committee opinion no. 698: hormone therapy in primary ovarian insufficiency. May 2017 [internet publication].[Full Text]
39. Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf). 2008;68:499-509.[Abstract]
40. Karnis MF, Zimon AE, Lalwani SI, et al. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril. 2003;80:498-501.[Abstract]
41. Chevalier N, Letur H, Lelannou D, et al. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab. 2011;96:260-267.[Abstract]
42. Cabanes L, Chalas C, Christin-Maitre S, et al. Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol. 2010;152:18-24.[Abstract]
43. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1487-1495.[Abstract][Full Text]
44. 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;92:3406-3416.[Abstract][Full Text]
45. Davenport ML. Moving toward an understanding of hormone replacement therapy in adolescent girls. Ann N Y Acad Sci. 2008;1135:126-137.[Abstract]
46. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011;364:1230-1242.[Abstract][Full Text]
47. Quigley CA, Wan X, Garg S, et al. Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab. 2014 Sep;99(9):E1754-64.[Abstract][Full Text]
48. Zuckerman-Levin N, Frolova-Bishara T, Militianu D, et al. Androgen replacement therapy in Turner syndrome: a pilot study. J Clin Endocrinol Metab. 2009;94:4820-4827.[Abstract]
49. Schoemaker MJ, Swerdlow AJ, Higgins CD, et al. Mortality in women with Turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab. 2008;93:4735-4742.[Abstract]
50. Nathwani NC, Unwin R, Brook CG, et al. Blood pressure and Turner syndrome. Clin Endocrinol (Oxf). 2000;52:363-370.[Abstract]
51. Gravholt CH, Juul S, Naeraa RW, et al. Morbidity in Turner syndrome. J Clin Epidemiol. 1998;51:147-158.[Abstract]
52. Roulot D, Degott C, Chazouillères O, et al. Vascular involvement of the liver in Turner's syndrome. Hepatology. 2004;39:239-247.[Abstract][Full Text]
53. King KA, Makishima T, Zalewski CK, et al. Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. Ear Hear. 2007;28:831-841.[Abstract]
54. Bakalov VK, Chen ML, Baron J, et al. Bone mineral density and fractures in Turner syndrome. Am J Med. 2003;115:259-264.[Abstract]
55. Hanton L, Axelrod L, Bakalov V, et al. The importance of estrogen replacement in young women with Turner syndrome. J Womens Health (Larchmt). 2003;12:971-977.[Abstract]
56. Bechtold S, Rauch F, Noelle V, et al. Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography. J Clin Endocrinol Metab. 2001;86:5819-5823.[Abstract][Full Text]
57. 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;88:5717-5722.[Abstract][Full Text]
58. Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.[Abstract][Full Text]
59. Lopez L, Arheart KL, Colan SD, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics. 2008;121:e1622-e1627.[Abstract]
60. Gravholt CH, Landin-Wilhelmsen K, Stochholm K, et al. Clinical and epidemiological description of aortic dissection in Turner's syndrome. Cardiol Young. 2006;16:430-436.[Abstract]