Turners Syndrome

I have actually never heard of this being a short case, but you don’t want to be the first. Stand back, look at the patients appearance. Get the patient to stand up. Notice the dwarfism, webbed neck and shield shaped chest. Ask for the BSL (glucose intolerance is a feature). Look at their hands, notice the short 4^th metacarpal and check for radial-radial or radial-femoral delay (10-20% have an associated coarctation of the aorta). Notice any lymphoedema which may be present in the hands or legs. Also look for pigmented naevi. Hypoplastic nails can also be a feature. Notice the abnormal angulation of the elbows. Moving up the arm, also take the blood pressure. Look at the face, notice the low hairline, low-set ears, ptosis, fish-like mouth and micrognathia. A receeding chin may also be present. There is also an associated with autoimmune thyroid disease- look for signs of that as well.

Klinefelters

Notice the tall stature with increased leg length, arm length may be longer than height – this may be difficult to measure if you don’t have a long tape. Look for signs of androgenization such as axillary and chest hair. Look for any testosterone pellet injection sites. Ask for the BSL. There is also an increased incidence of autoimmune disorders including thyroid. Lie the patient down, notice any gynaecomastia, obesity or varicose veins. You will need to examine the testes. Volumes in Klinefelters are usually 2-10mls. Ask for an orchidometer! (unless you carry your own).