[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Conditions](https://durgical.com/en/conditions/) › Turner syndrome [Conditions](https://durgical.com/en/conditions/) · [Pediatrics and neonatology](https://durgical.com/en/conditions/) # Turner syndrome Turner syndrome is a chromosomal condition in girls with one missing or altered X chromosome. It causes short stature, ovarian failure and heart defects. Updated 2026-11-01 ## Structures involved Tap one to see what it is and open it in 3D. - [Ovaries](https://durgical.com/en/anatomy/ovary/) - [Aortic arch](https://durgical.com/en/anatomy/aortic-arch/) - [Body of uterus](https://durgical.com/en/anatomy/body-of-uterus/) - [Ligamentum arteriosum](https://durgical.com/en/anatomy/ligamentum-arteriosum/) - [Aortic right coronary cusp](https://durgical.com/en/anatomy/right-coronary-leaflet/) - [Aortic left coronary cusp](https://durgical.com/en/anatomy/left-coronary-leaflet/) - [Kidneys](https://durgical.com/en/anatomy/kidney/) - [Thyroid gland](https://durgical.com/en/anatomy/thyroid-gland/) ## In embryology - [Meiosis and nondisjunction: where trisomies come from](https://durgical.com/en/embryology/meiosis-and-nondisjunction-where-trisomies-come-from/) - [Coarctation of the aorta](https://durgical.com/en/embryology/coarctation-of-the-aorta/) - [Prenatal diagnosis: ultrasound, serum screening, cell-free DNA, CVS, amniocentesis](https://durgical.com/en/embryology/prenatal-diagnosis-ultrasound-serum-screening-cell-free-dna-cvs-amniocentesis/) - [Sex determination: SRY, anti-Müllerian hormone and testosterone](https://durgical.com/en/embryology/sex-determination-sry-anti-mullerian-hormone-and-testosterone/) - [Horseshoe kidney and renal ectopia](https://durgical.com/en/embryology/horseshoe-kidney-and-renal-ectopia/) - [Differences of sex development: CAH, AIS and 5α-reductase](https://durgical.com/en/embryology/differences-of-sex-development-cah-ais-and-5-reductase/) ## Why it happens - [Edema and effusions: the four mechanisms](https://durgical.com/en/general-pathology/edema-and-effusions-the-four-mechanisms/) - [Chromosome abnormalities: number and structure](https://durgical.com/en/general-pathology/chromosome-abnormalities-number-and-structure/) - [Sex chromosome disorders: Klinefelter and Turner](https://durgical.com/en/general-pathology/sex-chromosome-disorders-klinefelter-and-turner/) - [Fetal hydrops: immune and nonimmune](https://durgical.com/en/general-pathology/fetal-hydrops-immune-and-nonimmune/) - [Sex determination and differentiation](https://durgical.com/en/physiology/sex-determination-and-differentiation/) - [Ovary: follicles, ovulation and corpus luteum](https://durgical.com/en/histology/ovary-follicles-ovulation-and-corpus-luteum/) ## What it is A sex-chromosome condition of females in whom one X chromosome is absent or structurally abnormal in all or some cells (classically 45,X). Its hallmarks are short stature and primary ovarian insufficiency. ## Who gets it Affects roughly 1 in 2,000 live-born girls worldwide, with no known ethnic predilection; most 45,X conceptions end in miscarriage. In Latin America, as elsewhere, many girls are diagnosed late, at the work-up of short stature or absent puberty. ## Causes - Monosomy X (45,X), about half of cases - Mosaicism (e.g. 45,X/46,XX) or a structurally abnormal X (isochromosome Xq, ring X, partial deletion) - A random error in gamete formation or early embryonic division; usually not inherited ## Risk factors - No modifiable risk factor; not linked to maternal age - Mosaicism with Y-chromosome material carries a risk of gonadoblastoma ## Pathophysiology Loss of genes on the missing X that escape X-inactivation explains most features: haploinsufficiency of the SHOX gene impairs bone growth and causes short stature, and accelerated loss of ovarian follicles leads to streak gonads. Fetal lymphatic obstruction produces cystic hygroma, a webbed neck and lymphoedema of the hands and feet, and is linked to left-sided heart and aortic defects. ## Classification - Classic monosomy 45,X - Mosaic Turner syndrome (milder, sometimes with spontaneous puberty) - Structural X abnormality (isochromosome Xq, ring X, Xp deletion) - Mosaicism with Y material (gonadoblastoma risk) ## Symptoms and signs - Short stature, usually evident in childhood and the most constant finding - Lymphoedema of the hands and feet at birth; webbed neck and low posterior hairline - Broad shield [chest](https://durgical.com/en/anatomy/region/chest/) with widely spaced nipples, cubitus valgus and short fourth metacarpals - Absent or incomplete puberty and primary amenorrhoea (primary ovarian insufficiency) - Recurrent otitis media and hearing loss - Usually normal intelligence, with possible nonverbal learning and visuospatial difficulties ## Red flags - Sudden chest or back pain, which may signal aortic dissection (risk rises with bicuspid valve, coarctation, hypertension and pregnancy) - Absent femoral pulses or a blood-pressure difference between arms and legs (coarctation of the aorta) - Short girl with growth falling below expected percentiles: karyotype is indicated even without dysmorphic features - Virilisation or a pelvic mass in a girl with Y-chromosome material (gonadoblastoma) ## Diagnosis **Clinical** Suspected prenatally (cystic hygroma, heart defect), at birth (lymphoedema, webbed neck), in childhood (short stature) or in adolescence (absent puberty). Examination includes growth charts, blood pressure in all four limbs and femoral pulses. **Tests** Peripheral blood karyotype confirms it (counting enough cells to detect mosaicism); testing for Y material when indicated. Raised FSH and LH with low oestradiol show ovarian failure. Screening for thyroid disease, coeliac disease, [liver](https://durgical.com/en/anatomy/liver/) enzymes, glucose and lipids, plus hearing tests. **Imaging** Echocardiography (and cardiac MRI in older girls) for bicuspid aortic valve, coarctation and aortic dilation; renal ultrasound for horseshoe [kidney](https://durgical.com/en/anatomy/kidney/) or other anomalies; pelvic ultrasound shows small uterus and streak [ovaries](https://durgical.com/en/anatomy/ovary/). ## Differential diagnosis - Noonan syndrome (similar appearance, normal karyotype, pulmonary stenosis, both sexes) - Constitutional delay of growth and puberty or familial short stature - Growth hormone deficiency or hypothyroidism - Other causes of primary amenorrhoea (Müllerian agenesis, androgen insensitivity) ## Goal of treatment Maximise adult height, induce and maintain puberty and bone health with hormone replacement, and detect and follow cardiac, renal, thyroid, hearing and metabolic problems through lifelong multidisciplinary care. ## Treatment **Medical** Recombinant growth hormone started in childhood when growth falters, to improve final height. **Medical** Oestrogen replacement at the usual age of puberty, later combined with a progestogen, to induce puberty, protect bone and maintain the uterus. **Surgical** Repair of coarctation or significant valve disease; prophylactic removal of gonads when Y-chromosome material is present. **Follow-up** Regular cardiac imaging and blood pressure, hearing, thyroid, liver, glucose and lipid checks; transition to adult care and fertility counselling (assisted reproduction with donor eggs carries high cardiovascular risk in pregnancy). ## Complications - Aortic dilation and dissection - Infertility from primary ovarian insufficiency - Osteoporosis without oestrogen replacement - Hypertension, diabetes and dyslipidaemia - Autoimmune hypothyroidism and coeliac disease - Conductive and sensorineural hearing loss ## Prognosis Most people live independent adult lives with normal intelligence, but life expectancy is somewhat reduced, mainly through cardiovascular disease. Early diagnosis and structured follow-up improve height, bone health and cardiac outcomes. ## Test yourself Think of the answer, then tap the question to see it. ## What is the most common karyotype in Turner syndrome? 45,X (monosomy X); the rest are mosaics or structural X abnormalities. ## Which two cardiovascular defects are classically associated with Turner syndrome? Bicuspid aortic valve and coarctation of the aorta, with a lifelong risk of aortic dilation and dissection. ## What hormone profile is seen in Turner syndrome at puberty? Hypergonadotropic hypogonadism: high FSH and LH with low oestradiol, from ovarian failure (streak ovaries). ## Which gene loss explains short stature in Turner syndrome? Haploinsufficiency of SHOX on the X chromosome. ## Which renal anomaly is typical of Turner syndrome? Horseshoe kidney (other collecting-system anomalies also occur). [Add to my cards (5)](https://durgical.app/estudiar/?add=/en/conditions/turner-syndrome/) ## Related conditions - [Coarctation of the aorta](https://durgical.com/en/conditions/coarctation-of-the-aorta/) - [Aortic dissection](https://durgical.com/en/conditions/aortic-dissection/) - [Lymphoedema](https://durgical.com/en/conditions/lymphoedema/) - [Hypothyroidism](https://durgical.com/en/conditions/hypothyroidism/) - [Osteoporosis](https://durgical.com/en/conditions/osteoporosis/) - [Klinefelter syndrome (47,XXY)](https://durgical.com/en/conditions/klinefelter-syndrome/) Educational information, not medical advice. For any symptom, see a health professional. Sources: [Turner syndrome: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/turner-syndrome/) (MedlinePlus, US National Library of Medicine, 2026). [← All conditions](https://durgical.com/en/conditions/) ## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake Representative model, for educational purposes only. --- Source: https://durgical.com/en/conditions/turner-syndrome/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/turner-syndrome/