Congenital adrenal hyperplasia

What is Congenital adrenal hyperplasia?

A group of autosomal recessively inherited disorders associated with a deficiency of one of the enzymes involved in cortisol biosynthesis, resulting in elevation of ACTH levels and overproduction and accumulation of cortisol precursors proximal to the block; androgens are produced in excess, causing virilization. The most common disorder is the 21-hydroxylase deficiency, caused by mutation in the cytochrome P450 21-hydroxylase gene (CYP21) on chromosome 6p. There are three major types with some clinical similarities but distinctive genetic and biochemical differences: the salt-losing form [MIM*201710, MIM*201810, and MIM*202110]; the simple virilizing form [MIM*201910]; and the late onset form. All three forms are associated with abnormalities of the 21-hydroxylase gene.

Questions and answers on "Congenital adrenal hyperplasia"

I have congenital adrenal hyperplasia , I used to ake 30mg hydrocortisone since I was child , Iam 40 i am married with three kids my HIV ELISA and...

doctor1 MD

Hello,
Thanks for the consult...

Brief answer,
1. I seen your query and i am happy to help you. You already mentioned that you had 3 kids and you...

Read Full Thread   Ask a Doctor Now

A female born with congenital adrenal hyperplasia and was born with a large clitrios. Does that automatically mean she has an urogenital sinus? And...

doctor1 MD

Brief Answer:
no not necessary to have urogenital sinus

Detailed Answer:
Hi
Thanks for writing to us.

Urogenital sinus is seen in patients with...

Read Full Thread   Ask a Doctor Now

Is congenital adrenal hyperplasia a rare disease? And is being born with a ambiguous genitalia is that even more rare? Can this disease be a fluke...

doctor1 MD

Brief Answer:
It is not rare

Detailed Answer:
Hi
Thanks for your query.

Congenital adrenal hyperplasia is not a rare disease.
Ambiguous genitalia...

Read Full Thread   Ask a Doctor Now

Recent questions on Congenital adrenal hyperplasia