Congenital

Adrenal
Hyperplasia (CAH)
By:
Anna Heideman
&
Angela Mullins
Congenital Adrenal
Hyperplasia
CAH refers to a
group of disorders
characterized by
genital
abornomalities due
to deficiencies of the
adrenal gland
Adrenal Glands
The adrenal glands are responsible for
producing several types of hormones including:
hydrocortisone hormone - this hormone, also known as
cortisol, controls the body's use of fats, proteins, and
carbohydrates.
corticosterone - this hormone, together with hydrocortisone
hormones, suppresses inflammatory reactions in the body
and also affects the immune system.
aldosterone hormone - this hormone inhibits the level of
sodium excreted into the urine, maintaining blood volume
and blood pressure.
Adrenal Glands

The adrenal glands also produce

epinephrine (known as adrenaline)
This hormone increases the heart rate and force
of heart contractions, facilitates blood flow to the
muscles and brain, causes relaxation of smooth
muscles, helps with conversion of glycogen to
glucose in the liver, and other activities.
Symptoms
Male Female
Enlarged penis Ambiguous genitalia
Failure to regain birth weight Failure to regain birth weight
Weight loss Weight loss
Dehydration Dehydration
Vomiting Vomiting
Precocious puberty Precocious puberty
Rapid growth during Rapid growth during
childhood, but shorter than childhood, but shorter than
average final height. average final height.
Infertility
Irregular or absent
menstruation
Masculine characteristics
Symptoms

Young woman with

excess hair growth

Baby girl with

ambiguous genitalia.
Causes

Lack of an enzyme needed by the

adrenal gland to make the hormones
cortisol and aldosterone.
Without these hormones, the body
produces more androgen which is a type
of male sex hormone.
This causes male characteristics to
appear early or inappropriately.
Location of Defective
Gene
CAH is caused by
mutations of the
CYP11B1 gene.

The CYP11B1 gene is

found on chromosomes
13 and 18
Diagnosis
To diagnose Congenital Adrenal Hyperplasia,
doctors look for:
Abnormal salt levels in the blood and urine
High levels of 17-OH progesterone
High levels of serum DHEA sulfate
High levels of urinary 17-ketosteroids
Low levels of aldosterone and cortisol
Normal or low urinary 17-hydroxycorticosteroids
older bones than normal for the person's age
Treatment

To treat CAH, children are usually

referred to a pediatric endocrinologist.
Oral drugs are prescribed to boost the
hormone levels
Hydrocortisone and Dexamethasone are
common meds to replace cortisol
Fludrocortisone might be prescribed to
replace aldosterone.
 Treatment
The medication
dosage is increased
during periods of
illness and severe
stress.
Most of the
medications
prescribed for CAH
are steroids.
Pedigree Chart
CAH is
autosomal
recessive.
This pedigree
chart illustrates
a childs
chances of
inheriting the
condition if both
parents are
carriers.
Pedigree Chart
Simple virilizing 21-hydroxylase
deficiency CAH is shaded with diagonal
lines, and salt-wasting CAH is black
Impact on Patient

The patient has to take medicine for the

rest of his/her life. Quitting the
medication can result in even bigger
problems such as: infertility, tumors,
obesity
With the right medication (synthetic
corticosterone or cortisol) CAH can be well
controled.
Impact on Family

Parents must ensure their child sees the

right doctors and takes the right
medication, but these visits can become
costly.
Impact on Society

The patients with more severe CAH

might not be accepted by society
because of their ambiguous genitalia.
Bibliography
http://www.pnas.org/content/90/10/4552.abstract
http://content.nejm.org/cgi/content/short/349/8/776
http://www.congenitaladrenalhyperplasia.org/
https://www.google.com/health/ref/Congenital+adrenal
+hyperplasia
http://jcem.endojournals.org/cgi/content/full/83/6/1940
http://www.newbornscreening.info/Parents/othe
rdisorders/CAH.html