Overview
Turner syndrome occurs secondary to monosomy X, where all or part of an X chromosome is missing, or due to duplication of the long arm of one X chromosome.
Manifestations
Clinical Features
- Female
- Short stature
- Puffy hands and feet (congenital lymphoedema)
- Added skin folds on the back of the neck
Complications of Turner Syndrome
Cardiovascular
- Bicuspid aortic valve
- Aortic coarctation
- Aortic dissection
- Hyperlipidaemia
Reproductive
- Ovarian failure
- Poor breast development
Other
- Osteoporosis
- Horseshoe kidney
- Autoimmune disorders - thyroiditis, coeliac disease
- Ocular pathology - myopia (nearsightedness), strabismus
- Ear pathology - sensorineural hearing loss, recurrent otitis media
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