Criteria
The following criteria are used in the diagnosis of Turner syndrome, based on a 2017 guideline:[3]
Complete or partial absence of the second sex chromosome in a phenotypic female with one or more typical clinical features of Turner syndrome such as:
Characteristic facial features
These include narrow palate; short, broad neck; webbing; and low-set, anomalous pinnae.
Short stature
Height less than 2.5th percentile for age-matched girls or greater than 2 standard deviations below expected for mid-parental target height.
Premature ovarian failure
Absence of pubertal development, or early menopause with elevated gonadotropins (hypergonadotropic hypogonadism).
Congenital heart defects
Common cardiovascular defects include bicuspid aortic valve and aortic coarctation.
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