WHAT IS CAH?

CONGENITAL ADRENAL HYPERPLASIA

 Disorder caused by excessive secretion of
androgens by the adrenal cortex are known
variously as congenital androgenital
hyperplasia (CAH), adrenocortical hyperplasia
(ACH), adrenogenital syndrome (AGS),
congenital adrenocortical hyperplasia (CAH).
 Frequency
 About
1 in 10,000 to 18,000 children are born with
congenital adrenal hyperplasia.
 ANATOMY AND PHYSIOLOGY
ENDOCRINE SYSTEM – ADRENAL GLAND
The system
of glands, each of
which secretes
different types
of hormones
directly into the
bloodstream to
Regulate the body.
The adrenal glands are
two bean-shaped glands
curved over the top of
the kidneys.
It has a glandular
(cortex) and neural
tissue (medulla) parts.
The central medulla
region is enclosed by
the adrenal cortex,
which contains three
separate layers.
 THE ADRENAL CORTEX IS RESPONSIBLE FOR
PRODUCING THREE MAJOR GROUPS OF STEROID
HORMONES KNOWN AS THE CORTICOSTEROID.
THE HORMONES ARE THE FOLLOWING:

Mineralocorticoids (aldosterone) – important in

regulating the mineral or salt content in the blood,
particularly the sodium and the potassium ions. The
target organ of this hormone is the kidney tubules which
is the one responsible for reabsorbing the minerals
selectively or allowing them to be excreted out from the
body. Increase aldosterone results to increase sodium
retention by the kidney tubules and excretion of the
potassium. When sodium increases the water also
increases or follows. Thus, mineralocorticoids help in
the regulation of water and electrolyte levels
(equilibrium) in the body.
Glucocorticoids (cortisone and cortisol) –
promotes the normal cell metabolism which
helps the body to counteract the stressors
(long-term) primarily by elevating glucose
levels in the blood. These hormones are also
called hyperglycemic hormones as their
triggers the breaking down of fats and
proteins into glucose.
Sex hormones (androgens) – produced by
the adrenal cortex throughout the life in
relatively small amounts. Hyper secretion of
the sex hormones leads to masculinization
regardless of the sex. Dramatic results are
noted in females as they grow beard, a
masculine body pattern of hair distribution
and other male attributes.
CLINICAL DISCUSSION
CAUSES

 Inherited as an autosomal-recessive trait

 People with congenital adrenal hyperplasia lack
an enzyme needed by the adrenal gland to
make the hormones cortisol and aldosterone.
SALT-LOOSING FORM OF CONGENITAL ADRENAL
HYPERPLASIA
 There is a complete blockage of cortisol
formation; therefore there is a deficient in
aldosterone production.
 No aldosterone: salt (Na) and fluid are lost

Manifestation:
 Immediately after birth: vomiting, diarrhea,
anorexia, loss of weight and extreme
dehydration. If left untreated can lead to
extreme loss of salt and fluid resulting to
collapse and death as early as 48 to 72 hours
Management
 Supplements of hydrocortisone in conjunction
with a high amount of salt and DOCA, a
synthetic aldosterone, given via IM for lasting
effect.
SIGNS AND SYMPTOMS
Female: Male
 Masculinization  Precocious genital
 Enlarged clitoris (appears as a development
small phallus)  Genital enlargement
 Fusion of labia (sac-like (macrogenitosemia
structure resembling a scrotum) precox)
 Vaginal orifice usually closed by  Frequent erections
fused labia  Testes remain small
 No breast development
 Female remains amenorrheic
and infertile
SIGNS AND SYMPTOMS
 Untreated:
 Early sexual maturation,
enlargement of external
sexual organs
 Development of axillary,
pubic and facial hair,
deepening of voice, Acne
 Marked increase in
musculature (changes toward
an adult male physique)
 Accelerated linear growth,
premature epiphyseal
closure (short stature by end
of puberty)
DIAGNOSTIC EVALUATION
 Serum electrolytes – demonstrate loss of sodium and
chloride; elevation of potassium
 Serum cortisol – increased 17-ketosteroid levels
 Ultrasonography – used to visualize the presence of
pelvic structures. It is specifically useful in CAH to identify
the absence or presence of female reproductive organs
in a newborn or child with ambiguous genitalia. Because
it yields immediate result, it has the advantage of
determining the child’s gender long before the more
complex laboratory results for chromosome analysis or
steroid levels are available.
 Chrionic villi sampling – The test is done to screen fetus
for genetic problems. Should be done as early as 6-8
weeks of pregnancy.
 Amniocentesis – is a test done at 15th week of pregnancy
to look for birth defects and genetic problems in the
developing baby.
POSSIBLE COMPLICATIONS

 High blood pressure

 Low blood sugar
 PREVENTION

 Prenatal diagnosis is available for some forms of

congenital adrenal hyperplasia. Diagnosis is made
in the first trimester by chorionic villus sampling.
Diagnosis in the second trimester is made by
measuring hormones such as 17-
hydroxyprogesterone in the amniotic fluid.
 A newborn screening test is available for the most
common form of congenital adrenal hyperplasia.
THERAPEUTIC MANAGEMENT
 Corticosteroid therapy
 Hormone replacement
therapy
 Reconstructive surgery –
required to reduce size of
clitoris, separate the labia
and create a vaginal
opening
 Plastic surgery – generally
done in stages and yields
excellent cosmetic results.
PATHOPHYSIOLOGY
Interference in the
biosynthesis of cortisol Leading to
during fetal life masculinization in
female and precocious
genital development in
male.
Increased production of
Adrenocorticotropic
hormone (ACTH)
Increase in ACTH leads
to increase production
At birth, the primary of androgen and
defect is an inability by hyperplasia of adrenal
the adrenal gland to glands
synthesize cortisol from
its precursor
(cholesterol)
There is an increase
production of ACTH
due to inability of the
adrenal glands to
produce cortisol
DRUG STUDY
Generic Classificatio Indication Contraindicatio Side Effects Nursing
Name n n Responsibilities
Dexamet Anti- Allergic C/I: glaucoma, Cardio: 1. To be taken
hasone inflammatory; disorders, systemic fungal hypertension with meal
Glucocorticoi cerebral infection, Dermatologic: 2. Only use with
d edema, hypersensitivity to atrophic condition calibrated
disorders of dexamethasone of skin, impaired dropper
endocrine skin healing provided
system Endocrine: 3. Advise
decreased body caregiver on
growth long term
Opthalmic: therapy to
increased avoid live-
intraocular attenuated
pressure vaccines: due
Psychiatric: to
Depression, immunosuppre
Euphoria ssion
Respiratory: 4. Advise
Pulmonary caregiver
tuberculocis against sudden
discontinuation
of drug
NURSING CARE PLAN
NCP 1
NCP 2
END