Congenital adrenal

hyperplasia
NAME
Hossam abd ellateef
Seif abd elhameed
Definition
C ongenital adrenal hyperplasia (C AH)
is a genetic disorder that affects the
adrenal glands, which produce
hormones that regulate various bodily
functions. C AH occurs when there is a
deficiency in one of several enzymes
needed to produce cortisol, a hormone
that helps the body respond to stress
and maintain blood sugar levels.
Symptoms in female

In females with C AH, excess androgens can cause

ambiguous genitalia at birth or virilization during puberty.
This means that the external genitals may not look clearly
male or female, or that a girl may develop more masculine
features such as a deeper voice, increased muscle mass, and
facial hair.

Other symptoms in females with C AH may include irregular

periods, infertility, and an increased risk of ovarian cysts
and endometrial cancer.
Symptoms in male

In males with C AH, excess androgens can cause early

puberty, rapid growth, and an enlarged penis. However, it
can also cause delayed puberty, small testes, and reduced
fertility.

Other symptoms in males with C AH may include an increased

risk of testicular tumors and prostate cancer
Salt-Wasting Type

One type of C AH is called salt -wasting C AH. This occurs

when there is a deficiency in the enzyme needed to produce
aldosterone, which helps regulate salt and water balance in
the body.

Symptoms of salt-wasting C AH may include dehydration, low

blood pressure, vomiting, and shock. It is a medical
emergency that requires immediate treatment.
Non-Salt-Wasting Type

Another type of C AH is called non -salt-wasting C AH. This

occurs when there is a deficiency in the enzyme needed to
produce cortisol, but aldosterone production is not affected.

Symptoms of non-salt-wasting C AH may include early

puberty, acne, excessive hair growth, and menstrual
irregularities in females.
RISK FACTOR

Factors that increase the risk of having C AH include:

• Parents who both have C AH or are both carriers of the

genetic change for the disorder

• B eing o f Ashkenazi Jewish, Latino , Mediterranean,

Yugoslav or Yup'ik ancestry
 COMPLICATIONS
People who have classic C AH are at risk of adrenal crisis.
This is a life -threatening medical emergency that requires
immediate treatment. Adrenal crisis can occur within the
first few days after birth. It can also be triggered at any
age by infectious illness or physical stress such as
surgery. Very low levels of cortisol in the blood can cause
diarrhea, vomiting, dehydration, low blood sugar levels,
seizures and shock. Aldosterone also may be low, which
leads to dehydration and low sodium and high potassiun
levels. The nonclassic form of C AH doesn't cause adrenal
crisis. People who have either classic or nonclassic C AH
may experience fertility pro blems
diagnosis

Diagnosis of C AH typically involves a physical

exam, blood tests to measure hormone levels,
and genetic testing to confirm the presence of
a gene mutation. Prenatal testing may also be
available for families with a history of C AH.
treatment
T he pr im ary treatm ent fo r CA H is ho rm o ne
r eplacem ent therapy, w hich inv o lv es taking
m edicatio ns to replace the m is s ing co rtis o l
and r egulate andro gen lev els . This can help
pr ev ent the dev elo pm ent o f m ale
char acteris tics in fem ales and reduce the
r is k o f adrenal cris is .

I n s o m e cas es , s urgery m ay be neces s ary to

co r r ect genital abno rm alities o r rem o v e
tum o r s that m ay dev elo p as a res ult o f the
ho r m o ne im balance. R egular m o nito ring and
m anagem ent o f ho rm o ne lev els is es s ential
to pr ev ent lo ng - term co m plicatio ns s uch as
o s teo po ro s is and infertilit y.
 reference

https://nyulangone.org /conditions /congenital -

adrenal- hyperplasia /diagnosis

https://www.hopkinsmedicine.org /health /condi

tions- and - d iseases /cong enital- adrenal-
hyperplasia

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