Congenital Adrenal Hyperplasia

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Starting with a correct premise!
Nov. 1st, 2008   6:35am

There is a lot of misinformation about the classifications of CAH.

As Rick correctly suggests, CAH is on a spectrum of severity ranging from very severe to very mild and this severity is largely determined by the mutations which one has. Generally the phenotype (disease expression) follows reasonable closely to the genotype (mutations).

One of the misunderstandings seeming to be expressed here, is that if you are not diagnosed at birth or soon after then you are LOCAH (non classical). This is not correct. A male Simple Viriliser (which is considered to be classical CAH and more severe than LOCAH), is often diagnosed in boys at about 3 or 4 years old or even later, when Newborn Screening is not available to detect it earlier.

So Rick falls nicely into this classical classification according to his own description. Therefore it is not unusual for SV CAH people to need some Florinef as well, because salt wasting can also be an issue for them albeit less severe than in SW. These days many SV CAH children are treated with Florinef when diagnosed.

 

 

Megan




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