Turner syndrome (including 45,X syndrome)

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Turner syndrome is a genetic disorder that can affect neurodevelopment, mental health, and multiple organ systems. It typically occurs as a sporadic chromosomal abnormality rather than as an inherited disorder. It may result from complete or partial loss of one X chromosome, including the classic 45,X karyotype and various mosaic or structural X-chromosome abnormalities. The phenotype may resemble Noonan syndrome, particularly in its short stature, webbed neck, and congenital heart disease, but these conditions are genetically distinct. Turner syndrome occurs in individuals with a female phenotype, whereas Noonan syndrome affects both females and males and is particularly associated with pulmonary valve stenosis and pectus deformities. A distinctive presentation of Turner syndrome may include the combination of short stature, broad chest with widely spaced nipples, and congenital lymphedema.

It can present with psychiatric features such as anxiety, depression, attention-deficit symptoms, social difficulties, low self-esteem, and autism-spectrum features. Psychiatric manifestations may become apparent or clinically significant during adolescence or adulthood. Psychotic disorders have also been reported.

From a morphologic lens perspective, features include (but are not limited to):

  • Low Posterior Hairline

  • Triangular face

  • Midface retrusion

  • Neck webbing

  • Short neck

  • Epicanthus

  • Protruding ears

  • Short metacarpal – third, fourth and/or fifth

Other characteristic features include developmental and learning difficulties, particularly mathematics and visuospatial difficulties, impaired executive functioning, attention difficulties, and difficulties with social cognition. Intellectual disability is not typical, although it may occur, particularly in individuals with certain chromosomal variants such as ring X. Characteristic physical features include short stature, webbed neck, lymphedema, delayed or absent puberty, and ovarian insufficiency with infertility. Hearing loss and recurrent otitis media are also common.

From a multisystemic lens perspective, clinical features in other body systems include (but are not limited to):

  • Cardiovascular: congenital heart disease, particularly bicuspid aortic valve and coarctation of the aorta; aortic root dilatation, aortic dissection, hypertension, and other vascular abnormalities may occur.

  • Renal/electrolytes: renal and urinary tract abnormalities, including horseshoe kidney, renal malposition, and collecting-system anomalies, may occur.

  • Gastrointestinal: coeliac disease and other gastrointestinal abnormalities may occur.

  • Endocrine: ovarian insufficiency with delayed or absent puberty, infertility, hypothyroidism, impaired glucose tolerance or diabetes mellitus, and obesity may occur.

  • Musculoskeletal: short stature, scoliosis, cubitus valgus, Madelung deformity, osteoporosis, and other skeletal abnormalities may occur.

  • Dermatologic: lymphedema, multiple melanocytic nevi, and other characteristic skin findings may occur.

Early diagnosis is important to identify potentially treatable medical contributors to psychiatric, developmental, and cognitive presentations, recognize congenital and acquired cardiovascular, renal, endocrine, skeletal, and hearing complications, guide appropriate developmental and educational support and lifelong medical surveillance, and enable timely treatment of psychiatric illness and other comorbidities.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.

Selected references and further reading — Multisystemic lens

Cardinal RN, Bullmore ET. The diagnosis of psychosis. Cambridge: Cambridge University Press; 2011.

Sachdev PS, Keshavan MS, editors. Secondary schizophrenia. Cambridge: Cambridge University Press; 2010.

Levenson JL, editor. The American Psychiatric Association Publishing textbook of psychosomatic medicine and consultation-liaison psychiatry. 3rd ed. Washington (DC): American Psychiatric Association Publishing; 2019.

Stern TA, Beach SR, Smith FA, Freudenreich O, Vranceau AM, Fava M, editors. Massachusetts General Hospital handbook of general hospital psychiatry. 8th ed. Philadelphia: Elsevier; 2025.

Arciniegas DB, Yudofsky SC, Hales RE, editors. The American Psychiatric Association Publishing textbook of neuropsychiatry and clinical neurosciences. 6th ed. Washington (DC): American Psychiatric Association Publishing; 2018.

Agrawal N, Faruqui R, Bodani M, editors. Oxford textbook of neuropsychiatry. Oxford: Oxford University Press; 2020.

Boland R, Verduin M, editors. Kaplan and Sadock's comprehensive textbook of psychiatry. 11th ed. Philadelphia: Wolters Kluwer; 2024.

Loscalzo J, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, editors. Harrison's principles of internal medicine. 22nd ed. New York: McGraw Hill; 2025.