Tuesday, July 29, 2014

C is for Congenital Adrenal Hyperplasia

Our first C word is congenital adrenal hyperplasia, more commonly known as CAH.  CAH is one of the more common, and most dangerous intersex conditions.  It is a term for several different recessive genetic mutations that affect the enzymes that convert cholesterol into cortisol in the adrenal glands.  This throws adrenal hormone production off kilter 

CAH is dangerous because the lack of aldosterone causes salt wasting.  Dehydration will set in within the first week after birth.  Vomiting, severe dehydration and circulatory collapse can happen within the second or third weeks after birth.  The good news is with hydrocortisone and a saline drip, most infants are out of danger within a day.  They will have to take glucocordicoids for the rest of their life to supply cortisol.  This is one of the few intersex conditions where I agree that immediate medical intervention is essential.  When a baby is born with ambiguous genitalia, the first thing doctors do is check hormone levels to see if it is CAH and immediate treatment is needed.

The adrenal glands of CAH patients put out more testosterone, genetically female patients will have ambiguous genitalia, and often more masculine hobbies and interests.  Because they do not produce mullarian duct developing hormones, they retain their ovaries and uterus.  They will have some diminished fertility, but could become pregnant.  Because of the excessive hormones, they often start puberty in mid-childhood and can lose several years of growth because of this.

This post is fairly simplistic because all the hormones involved with the CAH mutation are too complicated to get into here.  There are different kinds of CAH but they tend to have similar symptoms.

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