THIS PRESENTATION IS FOCUSSES ON CONGENITAL HYPERPLASIA, ITS DEFINITION, EPIDEMIOLOGY, ITS TYPES, PATHOGENESIS DIAGNOSIS AND MANAGEMENT OPTIONS IT DESCRIBES HOW CAH AFFECTS ON BODY, AND HOW BODY RESPONSES TO THIS CONDITION THIS IS THE CONDITION IN WHICH ADRENOMEGALY IS SEEN

1. CONGENITAL ADRENAL
HYPERPLASIA
(CAH)
MD 7A1
ALOK HRIDAY MISHRA

2. INCREASE IN SIZE OCCUR BY
HYPERTROPHY
HYPERPLASIA
METAPLASIA
!! MUST KNOW BASICS !!
ONE OF THE PATHOLOGY THAT
LEADS TO ADRENOMEGALY
OTHER THAN CAH CAN BE
“CUSHING DISEASE”

3. TABLE OF CONTENTS
• INTRODUCTION
• EPIDEMIOLOGY
• TYPES
• CAUSES
• PATHOGENESIS
• CLINICAL FEATURES
• DIAGNOSIS
• MANAGEMENT

4. INTRODUCTION
• Congenital adrenal hyperplasia (CAH) refers to a group of genetic
disorders that affect the adrenal glands, a pair of walnut-sized organs
above the kidneys. The adrenal glands produce important hormones,
including:
• Cortisol, which regulates the body's response to illness or stress
• Mineralocorticoids, such as aldosterone, which regulate sodium and
potassium levels
• Androgens, such as testosterone, which are male sex hormones
• In people who have CAH, a genetic problem results in a lack of one of the
enzymes needed to make these hormones.
• Although there is no cure, with proper treatment, most people who have
congenital adrenal hyperplasia can lead normal lives.
•

5. EPIDEMIOLOGY
• The classic form, also known as the severe form, occurs in
1:15,000 births worldwide, while the nonclassic or mild form
occurs in approximately 1:1,000 births worldwide and is much
more common (up to 1:20) in certain ethnic groups.
• People with a mutation in only one of the CAH-related genes do
not have symptoms of CAH. But they're called CAH
carriers because they can pass the CAH-causing gene to
their children
• Factors that increase the risk of having CAH include:
• Parents who both have CAH or are both carriers of the genetic
defect for the disorder
• Certain ethnic heritages, such as Ashkenazi Jew, but also
Hispanic, Italian, Yugoslav and Yupik Inuit

6. TYPES
• There are two major types of congenital adrenal
hyperplasia:
21 hydroxylase deficiency (>90%)
• Classic CAH. This form is rarer and is usually
detected in infancy. Approximately two-thirds of
people who have classic CAH have what's known
as the salt-losing form, while one-third have what's
referred to as the simple-virilizing form.
• Nonclassic CAH. This form is milder and more
common, and may not become evident until
childhood or early adulthood. (1 in 1000)
•

7. • MINOR TYPES:-
OR OTHERS
 11-HYDROXYLASE DEFICIENCY
 17ALPHA-HYDROXYLASE DEFICIENCY
 3-HYRDROXYSTEROID DEHYDROGENASE
DEFICIENCY

8. Estradiol

9. PATHOGENESIS

10. CLINICAL FEATURES
• CLASSICAL
ENZYME DEFICIENCY IS COMPLETE
(11 HYDROXYLASE DEFICIECNY) SO
LOW ALDOSTERONE
LOW CORTISOL
HIGH TESTOSTERNE
DECREASED ALDOSTERONE MEANS DECREASE
SODIUM ABSORPTION AND WE KNOW WATER
FOLLOW SODIUM THUS LESS WATER RETENTION
AND MORE POTASSIUM IN BODY

11. • SO,
• HYPOVALEMIA
• HYPONATREMIA
• HYPERKALEMIA
• HYPOTENSION
• DEHYDRATION (SUNKEN EYES AND MUCOSA)
• IRREGULAR HR
• DIARRHEA
• SHOCK
Decreased BP will activate RAAS mechanism
ALSO, decrease amount of cortisol, thus stress hormone is less thus it won’t target liver to
release glucose thus
• HYPOGLYCEMIA
Though testosterone will increase,
This causes
• early puberty in boys
• female oligomenorrhea can be seen
• Clitoromegaly
• Growth of hair and muscles in female
SALT
WASTING

12. • NON CLASSIC:-
• DEFICIENCY OF ENZYME IS PARTIAL BUT STILL ENZYME IS LITTLE BIT
ACTIVE TO PRODUCE ALMOST NEAR NORMAL LEVEL OF ALDOSTERONE,
CORTISOL BUT THOUGH THERE IS STILL ACCUMULATION OF PRODUCTS
THERE IS HIGH LEVEL OF TESTOSTERONE
• SO THERE IS NO SALTWASTING, OR OTHER MANIFESTATION AS
CLASSIC ONE BUT HAVE FEW FEATURES DUE TO EXTRA
TESTOSTERONE:-
• ACNE
• EXCESS HAIR GROWTH
• MUSCLE GROWTH
• EARLY PUBERTY
• OLIGOMENORRHEA
• MOOD SWINGS
• BODY ODOR
• OILY HAIR AND SKIN
• INFERTILITY

13. DIAGNOSIS
Prenatal testing:-
• Tests used to diagnose CAH in fetuses include:
• Amniocentesis. This procedure involves using a
needle to withdraw a sample of amniotic fluid from
the womb and then examining the cells.
• Chorionic villus sampling. This test involves
withdrawing cells from the placenta for
examination.
Any organomegaly must not be neglected as it could be
cancerous too thus biopsy is must

14. Newborns, infants and children
• Doctors recommend that all newborns in the United States be
screened for genetic 21-hydroxylase deficiency during the first few
days of life. This test identifies the classic form of CAH but doesn't
identify the nonclassic form.
• Diagnosis of CAH in older children and young adults includes:
• Physical exam. If the doctor suspects CAH based on a physical exam
and symptoms, the next step is to confirm the diagnosis with blood and
urine tests.
• Blood and urine tests. These tests look for abnormal levels of
hormones produced by the adrenal glands.
• Gene testing. In older children and young adults, genetic testing may
be needed to diagnose CAH.
• Testing to determine a child's sex. In female infants who have
severe ambiguous genitalia, tests can be done to analyze
chromosomes to identify genetic sex. Also, pelvic ultrasound can be

15. MANAGEMENT
• THERE IS NO KNOWN WAY TO PREVENT CONGENITAL ADRENAL
HYPERPLASIA.
• ALSO THERE IS NO CURE
• Supportive therapies can be given thorughout the life
• Medications:-
• People who have the classic form of CAH can successfully manage the
condition by taking hormone replacement medications throughout their lives.
• People who have nonclassic CAH may not require treatment or may need only
small doses of corticosteroids.
• Corticosteroids to replace cortisol
• Mineralocorticoids to replace aldosterone to help retain salt and get rid of
excess potassium
• Salt supplements to help retain salt
• Classic CAH is treated with steroids that replace the low hormones, in
females

16. • Reconstructive surgery:-
In some female infants who have severe ambiguous genitalia as a result of
classic CAH, doctors may recommend reconstructive surgery to improve genital
function and make them look more feminine
• Prenatal treatment
• Synthetic corticosteroids that cross the placenta to the fetus are controversial
and considered experimental. More research is needed to determine the long-
term safety and the effect of this treatment on fetal brain development.
Very important Is :-
Psychological support is important to the emotional health and social adjustment of
female children who have genital abnormalities.