- Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD more...
Turner syndrome is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants.[1, 2] Turner syndrome (see the image below) is caused by the absence of one set of genes from the short arm of one X chromosome.
Signs and symptoms
At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes. Infants also have a higher incidence of congenital hip dislocation.
During childhood, girls with Turner syndrome usually present with short stature. In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature.
Growth rate in childhood is slightly slower; before age 11 years, some girls have height and growth rates that are well within the normal range, but heights are typically below the 50th percentile 
The adolescent growth spurt is essentially absent
Adrenarche, the beginning of pubic hair growth, occurs at a normal age
Breast development is absent when ovarian failure occurs before puberty
Primary or secondary amenorrhea occurs with ovarian failure
Other characteristic physical findings
Dental: A high arched palate, sometimes with dental crowding or malocclusion
Nails: Hypoplastic or hyperconvex nails
Nevi: Excessive numbers of nevi, when compared to other family members
Webbed neck: A broad neck and a low or indistinct hairline
Cubitus valgus (increased carrying angle)
Madelung deformities of the wrist
Short fourth and fifth metacarpals and metatarsals
Shield chest: The chest appears to be broad with widely spaced nipples
Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness
Ears: Serous otitis media is more common  ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults
GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased
Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature
Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings
Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart  , coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood
Thyroid: Hypothyroidism develops in 10-30% of patients  and is often associated with thyroid enlargement
Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy
See Clinical Presentation for more detail.
On fetal ultrasonography, Turner syndrome is suggested by the presence of a nuchal cystic hygroma,[7, 8] horseshoe kidney, left-sided cardiac anomalies, or nonimmune fetal hydrops
Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling
Noninvasive prenatal testing of maternal blood can be used to screen for Turner syndrome with great sensitivity and specificity. 
A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, to exclude mosaicism 
Diagnosis is confirmed by the presence of a 45,X cell line or a cell line with deletion of the short arm of the X chromosome (Xp deletion)
The buccal smear for Barr bodies is obsolete
A male phenotype excludes the diagnosis, regardless of karyotype 
Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe
Gonadotropins: Both LH and FSH may be elevated in untreated patients younger than 4 years; they are later suppressed to normal or near-normal levels, only to rise to menopausal levels after age 10 years 
Thyroid function tests: Because of the high prevalence of hypothyroidism in Turner syndrome,  obtain thyroid function tests at diagnosis; repeat TSH measurements every 1-2 years or if symptoms develop, because hypothyroidism may develop at a later age
Glucose metabolism: Abnormalities of glucose metabolism, including overt diabetes mellitus, are more common than in unaffected children; screening for diabetes mellitus is best performed by obtaining a hemoglobin A1c or fasting glucose level; glucose tolerance tests should not be used for screening
At diagnosis, perform ultrasonography of the kidneys and renal collecting system
Annual urine cultures and measurement of BUN and creatinine levels are recommended for those patients with abnormalities of the renal collecting system that predispose to obstruction
Perform echocardiography and/or MRI of the heart and aorta upon diagnosis
Evaluate 4-limb blood pressures, because of the high incidence of coarctation of the aorta
Infants diagnosed at birth should have a hearing assessment in the nursery
Formal hearing assessment is recommended at age 1 year and before entering school
Formal re-evaluation every 5 years has been recommended; more frequent testing is needed in children with repeated otitis media
Adults should have a hearing evaluation at least once, with further testing later if hearing loss is suspected
See Workup for more detail.
Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential.
Growth hormone therapy
In childhood, growth hormone therapy is standard to prevent short stature as an adult [14, 15, 16]
The ideal age for initiating treatment has not been established; taller adult heights occur with the longest treatment durations before the start of puberty
Growth hormone may have long-term favorable effects on lipids, even after it is discontinued. 
Sex hormone replacement therapy
Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height
Estrogen is usually started at age 12-15 years
Continuous low-dose estrogens can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later
Some authors believe that conjugated estrogens are contraindicated in pediatric patients 
Nephrologist or urologist
Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU)
Patients should avoid obesity, which increases already high risks of hypertension and insulin resistance
Patients with short stature require fewer calories than those of normal height
In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. More than 95% of adult women with Turner syndrome exhibit short stature and infertility. Examples of manifestations of Turner syndrome are shown in the images below.
Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. In patients with 45,X karyotype, about two thirds are missing the paternal X chromosome. In addition to monosomy X, a similar clinical picture is found with a 46,XXiq karyotype and in some individuals with mosaic karyotypes. A deletion of the SHOX gene can cause a similar skeletal phenotype known as Leri-Weill dyschondrosteosis.
The frequency is approximately 1 in 2000 live-born female infants. As many as 15% of spontaneous abortions have a 45,X karyotype. Interestingly, 99% of conceptions with 45,X karyotypes spontaneously abort.
The incidence is the same as in the United States. No known ethnic or racial factors influence frequency.
Mortality may be increased in the neonatal period because of hypoplastic left heart and coarctation of the aorta and in adulthood because of cardiovascular disease, particularly aortic dissection.Obesity, with associated diabetes mellitus and hypertension, can also contribute to early mortality. Limited epidemiologic studies suggest that life expectancy is reduced by about 10 years. Osteoporosis is common.
Although congenital cardiovascular malformations and aortic dilatation are common among patients with Turner syndrome, they are often undiagnosed until later in life, pointing to the need for a more systematic approach to cardiovascular monitoring.
Renal anomalies found in some individuals may cause a predisposition to urinary tract infections or hypertension. Even in the absence of cardiac or renal anomalies, patients are prone to develop hypertension.
Individuals with mitral valve disease or aortic valve disease require subacute bacterial endocarditis (SBE) prophylaxis.
In a Danish study, the overall risk of autoimmune disease among women with Turner syndrome was twice that among Danish women in general. Risk for autoimmune diseases more often found in males was notably high. For individual diseases, associations were strongest for Hashimoto thyroiditis, a condition more common in females, and type 1 diabetes mellitus.
No racial or ethnic predilections are known.
Turner syndrome only occurs in females. Noonan syndrome, sometimes inappropriately called male Turner syndrome, can occur in males or females. It is an autosomal dominant genetic disorder and is not a chromosomal disorder. It is unrelated to Turner syndrome.
As a chromosomal disorder, Turner syndrome is present at conception or following the first cell division and remains throughout life. Gonadotropin levels, particularly follicle-stimulating hormone (FSH) levels, may be elevated at birth, although not reliably enough for use in neonatal screening. They are gradually suppressed by about age 4 years, only to rise to menopausal levels after age 10 years.
Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938. 23:566-574.
[Guideline] Donaldson MD, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child. 2006 Jun. 91(6):513-20. [Medline].
Lyon AJ, Preece MA, Grant DB. Growth curve for girls with Turner syndrome. Arch Dis Child. 1985 Oct. 60(10):932-5. [Medline].
Sculerati N, Ledesma-Medina J, Finegold DN, Stool SE. Otitis media and hearing loss in Turner syndrome. Arch Otolaryngol Head Neck Surg. 1990 Jun. 116(6):704-7. [Medline].
Natowicz M, Kelley RI. Association of Turner syndrome with hypoplastic left-heart syndrome. Am J Dis Child. 1987 Feb. 141(2):218-20. [Medline].
Pai GS, Leach DC, Weiss L, Wolf C, Van Dyke DL. Thyroid abnormalities in 20 children with Turner syndrome. J Pediatr. 1977 Aug. 91(2):267-9. [Medline].
Alpman A, Cogulu O, Akgul M, et al. Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals. Fetal Diagn Ther. 2008 Mar 12. 25(1):58-61. [Medline].
Carr RF, Ochs RH, Ritter DA, Kenny JD, Fridey JL, Ming PM. Fetal cystic hygroma and Turner's syndrome. Am J Dis Child. 1986 Jun. 140(6):580-3. [Medline].
Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015 Mar. 45 (3):249-66. [Medline].
[Guideline] Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010 Apr. 95(4):1487-95. [Medline].
[Guideline] Bondy CA. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan. 92(1):10-25. [Medline].
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 Apr. 40(4):670-4. [Medline].
Elsheikh M, Conway GS, Wass JA. Medical problems in adult women with Turner's syndrome. Ann Med. 1999 Apr. 31(2):99-105. [Medline].
Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, Fechner PY, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007 Sep. 92(9):3406-16. [Medline].
Backeljauw P. Does growth hormone therapy before 4 years of age enhance the linear growth of girls with Turner's syndrome?. Nat Clin Pract Endocrinol Metab. 2008 Feb. 4(2):78-9. [Medline].
Bolar K, Hoffman AR, Maneatis T, Lippe B. Long-term safety of recombinant human growth hormone in turner syndrome. J Clin Endocrinol Metab. 2008 Feb. 93(2):344-51. [Medline].
Bannink EM, van der Palen RL, Mulder PG, de Muinck Keizer-Schrama SM. Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. Horm Res. 2009. 71(6):343-9. [Medline].
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 Jul. 86(7):3039-44. [Medline].
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 Dec. 94(12):4820-7. [Medline].
Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician. 2007 Aug 1. 76 (3):405-10. [Medline].
Donadille B, Rousseau A, Zenaty D, Cabrol S, Courtillot C, Samara-Boustani D, et al. CARDIOVASCULAR FINDINGS AND MANAGEMENT IN TURNER SYNDROME: INSIGHTS FROM A FRENCH COHORT. Eur J Endocrinol. 2012 Jul 16. [Medline].
Jorgensen KT, Rostgaard K, Bache I, et al. Autoimmune diseases in women with Turner's syndrome. Arthritis Rheum. 2010 Mar. 62(3):658-66. [Medline].
Heinrichs C, Bourdoux P, Saussez C, Vis HL, Bourguignon JP. Blood spot follicle-stimulating hormone during early postnatal life in normal girls and Turner's syndrome. J Clin Endocrinol Metab. 1994 Apr. 78(4):978-81. [Medline].
Ross JL, Quigley CA, Cao D, Feuillan P, Kowal K, Chipman JJ. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011 Mar 31. 364(13):1230-42. [Medline].
Illig R, Tolksdorf M, Mürset G, Prader A. LH and FSH response to synthetic LH-RH in children and adolescents with Turner's and Klinefelter's syndrome. Helv Paediatr Acta. 1975 Oct. 30(3):221-31. [Medline].
Samarakoon L, Sirisena ND, Wettasinghe KT, Kariyawasam KW, Jayasekara RW, Dissanayake VH. Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea. J Obstet Gynaecol Res. 2012 Dec 21. [Medline].
[Guideline] Frias JL, Davenport ML. Health supervision for children with Turner syndrome. Pediatrics. 2003 Mar. 111(3):692-702. [Medline].
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997 May. 16(1):54-63. [Medline].
Bianco B, Lipay MV, Melaragno MI, Guedes AD, Verreschi IT. Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. J Pediatr Endocrinol Metab. 2006 Sep. 19(9):1113-7. [Medline].
Birdsall M, Kennedy S. The risk of aortic dissection in women with Turner syndrome. Hum Reprod. 1996 Jul. 11(7):1587. [Medline].
Nadeem M, Roche EF. Bone health in children and adolescent with Turner syndrome. J Pediatr Endocrinol Metab. 2012. 25(9-10):823-33. [Medline].
Ross JL, Quigley CA, Cao D, Feuillan P, Kowal K, Chipman JJ, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011 Mar 31. 364(13):1230-42. [Medline].
Hong DS, Dunkin B, Reiss AL. Psychosocial functioning and social cognitive processing in girls with turner syndrome. J Dev Behav Pediatr. 2011 Sep. 32(7):512-20. [Medline].
Gould HN, Bakalov VK, Tankersley C, Bondy CA. High levels of education and employment among women with turner syndrome. J Womens Health (Larchmt). 2013 Mar. 22(3):230-5. [Medline].
Stephure DK. Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005 Jun. 90(6):3360-6. [Medline].
Bender B, Puck M, Salbenblatt J, Robinson A. Cognitive development of unselected girls with complete and partial X monosomy. Pediatrics. 1984 Feb. 73(2):175-82. [Medline].
Price WH, Clayton JF, Collyer S, De Mey R, Wilson J. Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome. J Epidemiol Community Health. 1986 Jun. 40(2):97-102. [Medline].
Garden AS, Diver MJ, Fraser WD. Undiagnosed morbidity in adult women with Turner's syndrome. Clin Endocrinol (Oxf). 1996 Nov. 45(5):589-93. [Medline].
Hovatta O. Pregnancies in women with Turner's syndrome. Ann Med. 1999 Apr. 31(2):106-10. [Medline].
Kaneko N, Kawagoe S, Hiroi M. Turner's syndrome--review of the literature with reference to a successful pregnancy outcome. Gynecol Obstet Invest. 1990. 29(2):81-7. [Medline].
Wasserman D, Asch A. Reproductive medicine and Turner syndrome: ethical issues. Fertil Steril. 2012 Oct. 98(4):792-6. [Medline].
Chorazy PA, Himelhoch S, Hopwood NJ, Greger NG, Postellon DC. Persistent hypothyroidism in an infant receiving a soy formula: case report and review of the literature. Pediatrics. 1995 Jul. 96(1 Pt 1):148-50. [Medline].
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(5-6):157-64. [Medline].
Even L, Cohen A, Marbach N, Brand M, Kauli R, Sippell W, et al. Longitudinal analysis of growth over the first 3 years of life in Turner's syndrome. J Pediatr. 2000 Oct. 137(4):460-4. [Medline].
Fryer SL, Kwon H, Eliez S, Reiss AL. Corpus callosum and posterior fossa development in monozygotic females: a morphometric MRI study of Turner syndrome. Dev Med Child Neurol. 2003 May. 45(5):320-4. [Medline].
Goldacre MJ, Seminog OO. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child. 2013 Sep 24. [Medline].
[Guideline] Gravholt C. Clinical Practice in Turner Syndrome. Nature Clinical Practice Endocrinology & Metabolism. 2005. 1:41-52.
Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol. 1998 Feb. 51(2):147-58. [Medline].
Hasle H, Olsen JH, Nielsen J, Hansen J, Friedrich U, Tommerup N. Occurrence of cancer in women with Turner syndrome. Br J Cancer. 1996 May. 73(9):1156-9. [Medline].
Health supervision for children with Turner syndrome. American Academy of Pediatrics. Committee on Genetics. Pediatrics. 1995 Dec. 96(6):1166-73. [Medline].
Lippe BM. Primary Ovarian Failure. Clinical Pediatric Endocrinology. Philadelphia, Pa: WB Saunders; 1990: 325-366.
Mazzanti L, Prandstraller D, Tassinari D, Rubino I, Santucci S, Picchio FM, et al. Heart disease in Turner's syndrome. Helv Paediatr Acta. 1988 Aug. 43(1-2):25-31. [Medline].
Medeiros CC, Marini SH, Baptista MT, Guerra G Jr, Maciel-Guerra AT. Turner's syndrome and thyroid disease: a transverse study of pediatric patients in Brazil. J Pediatr Endocrinol Metab. 2000 Apr. 13(4):357-62. [Medline].
Miller G. Study Charts Constellation of Turner Syndrome-Related Autoimmune Diseases. Available at http://www.medscape.com/viewarticle/812298. Accessed: October 21, 2013.
Neumann PJ, Gharib SD, Weinstein MC. The cost of a successful delivery with in vitro fertilization. N Engl J Med. 1994 Jul 28. 331(4):239-43. [Medline].
Sas TC, de Muinck Keizer-Schrama SM, Stijnen T, van Teunenbroek A, Hokken-Koelega AC, Waelkens JJ, 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 Jan. 80(1):36-41. [Medline]. [Full Text].
Soriano-Guillen L, Coste J, Ecosse E, et al. Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone. J Clin Endocrinol Metab. 2005 Sep. 90(9):5197-204. [Medline]. [Full Text].
Starke M, Albertsson Wikland K, Möller A. Parents' descriptions of development and problems associated with infants with Turner syndrome: a retrospective study. J Paediatr Child Health. 2003 May-Jun. 39(4):293-8. [Medline].
Zinn AR, Ross JL. Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF). Semin Reprod Med. 2001 Jun. 19(2):141-6. [Medline].