Turner's Syndrome

Case record by Wucheceria

Short stature
Webbed neck and low set hairline
Wide carrying angle

Approach

Short stature

Hands
*Short 4th metacarpal
*Wide carrying angle (cubitus valgus)

Face
*Hypertelorism
*Epicanthic fold
*High arched palate

Neck
*Webbed neck
*Low hairline

Chest
*ASD scar
*Shield like chest
*Wide spaced nipple

Lymphoedema
Mental retardation is rare
Left sided heart lesions i.e. aortic stenosis , coarctation of aorta

Questions:
What renal abnormalities are associated with Turner’s
Horseshoe kidney and hydronephrosis

Is pregnancy possible ?
Yes in the mosaic individuals with normal 46 XX cell line

How would you manage such patients ?
Tretment is supportive and includes hormone replacement therapy on attaining puberty, primarily to prevent osteoporosis and induce sexual maturation or menses

Differential diagnosis
Noonan’s syndrome