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Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic
This test stimulates your acoustic nerve by delivering cold or warm water or air into your ear canal. When cold water or air enters your ear and the inner ear changes temperature, it should cause fast, side-to-side eye movements called nystagmus. The test is done in the following way: Before the test, your ear, especially the eardrum, will be checked. This is to make sure it is normal. One ear is tested at a time. A small amount of cold water or air is gently delivered into one of your ears. Your eyes should show an involuntary movement called nystagmus. Then they should turn away from that ear and slowly back. If water is used, it is allowed to drain out of the ear canal. Next, a small amount of warm water or air is gently delivered into the same ear. Again, your eyes should show nystagmus. Then they should turn toward that ear and slowly back. Your other ear is tested in the same way.
Delayed puberty is defined as the absence of any signs suggestive of puberty by 14 years of age. In this case, the patient's pubertal delay appears to be constitutional because of his positive family history, absence of syndromic features or systemic illness, and bone age of 12 years. Puberty correlates more closely with bone age than chronological age. On follow-up, the patient will most likely demonstrate a similar onset of puberty as his father.