Presence of typical findings in a phenotypic female with complete or partial absence of the second sex chromosome
Prevalence: 1:2,000 to 5,000 liveborn females
- Genotype frequencies
- 45,X 55%
- 46,Xi(Xq) 17%
- 45,X/46,XX 13%
- 46,Xr(X) 5%
- 45,X/46,XY 5%
- Other 5%
- Recurrence risk is low in subsequent pregnancies in the absence of familial X chromosome defects.
- Deletion of the SHOX gene at Xp22.33 is responsible for the majority of the height deficit in affected patients.
- Fetuses with Turner syndrome have accelerated loss of germ cells from the second half of gestation through the first few years of life, with eventual gonadal failure.
Commonly Associated Conditions
- Short stature (~100%)
- Hypogonadism (90%)
- Sensorineural hearing loss in adults (60%)
- Hypertension (50%)
- Glucose intolerance in adults (40–50%)
- Autoimmune thyroiditis (27%)
- ADHD (24%)
- Conductive hearing loss (21%)
- Renal collecting system abnormalities (20%)
- Strabismus/hyperopia (17%)
- Bicuspid aortic valve (16%)
- Coarctation of the aorta (11%)
- Horseshoe kidney (10%)
- Celiac disease (6%)
- Aortic dissection (1–2%)
There's more to see -- the rest of this topic is available only to subscribers.
Cabana, Michael D., editor. "Turner Syndrome." 5-Minute Pediatric Consult, 8th ed., Wolters Kluwer, 2019. Pediatrics Central, peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618163/all/Turner_Syndrome.
Turner Syndrome. In: Cabana MDM, ed. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618163/all/Turner_Syndrome. Accessed May 31, 2023.
Turner Syndrome. (2019). In Cabana, M. D. (Ed.), 5-Minute Pediatric Consult (8th ed.). Wolters Kluwer. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618163/all/Turner_Syndrome
Turner Syndrome [Internet]. In: Cabana MDM, editors. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. [cited 2023 May 31]. Available from: https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618163/all/Turner_Syndrome.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Turner Syndrome ID - 618163 ED - Cabana,Michael D, BT - 5-Minute Pediatric Consult UR - https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618163/all/Turner_Syndrome PB - Wolters Kluwer ET - 8 DB - Pediatrics Central DP - Unbound Medicine ER -