CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY

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 used to identify the presence of female reproductive structures such as the uterus and ovaries.

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.