Congenital Adrenal Hyperplasia Exam 2023 Questions and
Answers Complete
What is congenital adrenal hyperplasia?
Genetic disease in which the adrenal gland is overdeveloped, resulting in a deficiency of
certain hormones and an overproduction of others
What is the inheritance of CAH?
Autosomal Recessive
What is the commonest enzyme that is deficient in CAH?
21-hydroxylase (>90%)
Congenital Adrenal Hyperplasia (CAH)
What is the difference between classical and non-classical CAH?
Classical CAH is the more severe form with reduced aldosterone and cortisol production
- there are two forms of classical CAH
Non-classical CAH makes enough (or almost enough) aldosterone and cortisol but
makes excess androgens
What are the two types of classical CAH?
Salt wasting - SWCAH
Non salt wasting/simple virilizing -SVCAH
What is the non-classical form of CAH?
Late onset CAH
Describe salt-wasting CAH
The adrenal glands cannot make cortisol (stress hormone) or aldosterone (salt-retaining
hormone) causing the fluid and electrolytes in the body to be out of balance. It can be
life threatening if not treated properly. At the same time, the adrenal glands make too
much androgen.
What about non classical CAH? (late onset CAH)
It is a milder form of CAH and is not life threatening. The adrenal glands produce normal
or nearly normal amounts of cortisol and aldosterone.
But they also make too much androgen.
In late childhood or adulthood, signs of excess male hormone appear. The excess
androgens can cause early puberty, and problems like the development of unwanted
body and facial hair, severe acne, or menstrual problems.
(think Mustafa's kids)
Describe simple virilizing CAH
The adrenal glands make enough aldosterone, but not enough cortisol. They make too
much androgen, but often less than in SWCAH.
Non-Classical CAH (Late onset)
Classical CAH
What does 21-hydroxylase deficiency lead to?
The adrenal gland can't produce cortisol + aldosterone
Answers Complete
What is congenital adrenal hyperplasia?
Genetic disease in which the adrenal gland is overdeveloped, resulting in a deficiency of
certain hormones and an overproduction of others
What is the inheritance of CAH?
Autosomal Recessive
What is the commonest enzyme that is deficient in CAH?
21-hydroxylase (>90%)
Congenital Adrenal Hyperplasia (CAH)
What is the difference between classical and non-classical CAH?
Classical CAH is the more severe form with reduced aldosterone and cortisol production
- there are two forms of classical CAH
Non-classical CAH makes enough (or almost enough) aldosterone and cortisol but
makes excess androgens
What are the two types of classical CAH?
Salt wasting - SWCAH
Non salt wasting/simple virilizing -SVCAH
What is the non-classical form of CAH?
Late onset CAH
Describe salt-wasting CAH
The adrenal glands cannot make cortisol (stress hormone) or aldosterone (salt-retaining
hormone) causing the fluid and electrolytes in the body to be out of balance. It can be
life threatening if not treated properly. At the same time, the adrenal glands make too
much androgen.
What about non classical CAH? (late onset CAH)
It is a milder form of CAH and is not life threatening. The adrenal glands produce normal
or nearly normal amounts of cortisol and aldosterone.
But they also make too much androgen.
In late childhood or adulthood, signs of excess male hormone appear. The excess
androgens can cause early puberty, and problems like the development of unwanted
body and facial hair, severe acne, or menstrual problems.
(think Mustafa's kids)
Describe simple virilizing CAH
The adrenal glands make enough aldosterone, but not enough cortisol. They make too
much androgen, but often less than in SWCAH.
Non-Classical CAH (Late onset)
Classical CAH
What does 21-hydroxylase deficiency lead to?
The adrenal gland can't produce cortisol + aldosterone
