8 doctors weighed in:

What sort of disease is congenital adrenal hyperplasia?

8 doctors weighed in
Dr. Melissa Young
Internal Medicine - Endocrinology
6 doctors agree

In brief: Missing enzyme

There are different types.
They all involve a deficiency of an enzyme needed in cortisol production. Since the pituitary senses there isn't enough cortisol, it keeps trying to make the adrenals make cortisol. But because that enzyme is missing, the building blocks of cortisol build up. These substances get turned into androgens - male hormones - and cause abnormalities in sexual development.

In brief: Missing enzyme

There are different types.
They all involve a deficiency of an enzyme needed in cortisol production. Since the pituitary senses there isn't enough cortisol, it keeps trying to make the adrenals make cortisol. But because that enzyme is missing, the building blocks of cortisol build up. These substances get turned into androgens - male hormones - and cause abnormalities in sexual development.
Dr. Melissa Young
Dr. Melissa Young
Thank
Dr. Gurmukh Singh
Pathology
2 doctors agree

In brief: Gene mutation

A mutated form of the enzyme blocks the normal production of adrenal hormoes and causes excess production of male sex hormones on both male and female fetuses and babies.

In brief: Gene mutation

A mutated form of the enzyme blocks the normal production of adrenal hormoes and causes excess production of male sex hormones on both male and female fetuses and babies.
Dr. Gurmukh Singh
Dr. Gurmukh Singh
Thank
Dr. Gurmukh Singh
Pathology
1 doctor agrees

In brief: Gene Mutation

A mutated form of the enzyme blocks the normal production of adrenal hormoes and causes excess production of male sex hormones on both male and female fetuses and babies.

In brief: Gene Mutation

A mutated form of the enzyme blocks the normal production of adrenal hormoes and causes excess production of male sex hormones on both male and female fetuses and babies.
Dr. Gurmukh Singh
Dr. Gurmukh Singh
Thank
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