CONGENITAL ADRENAL HYPERPLASIA. CONGENITAL ADRENAL HYPERPLASIA. ADRENOGENITAL SYNDROME. SUB DIVISIONS OF CAH. 11 - B - Hydroxylase deficiency. 17 a - Hydroxylase deficiency. 21 - Hydroxylase deficiency. 3 - beta - hydroxysteroid dehydrogenase deficiency. Congenital lipoid adrenal hyperplasia. CAH is a group of rare inherited autosomal recessive disorders characterised by a deficiency of one of the enzymes needed to make specific hormones. Adrenal glands produce three different hormones. Corticosteroids. Mineralocorticoids Androgens. The most common cause of CAH is absence of 21 -hydroxylase enzyme and constitutes 95 % of all cases of CAH. There are two types of CAH. 1) ClaSsical CAH salt loosing //simple virilizing. 2) Non - classical CAH. Deficiency of an enzyme leads to under production of that hormone and over production of another type of hormones. SIGNS AND SYMPTOMS. Females will have ambiguous genitilia masculinization and normal female internal reproductive organs and they are genetically female. Males will not have ambiguous genitilia. Both genders have early onset of puberty,fast body growth and premature completion of growth causing short stature. As they have associated aldosterone deficiency ,they have dehydration,hypovolemia,hypotension and shock. Untreated CAH leads to circulatory failure due to adrenal crisis in infancy. Non - classical CAH is not life threatening and is due to genetic mutation. CAUSES. Deletions and mutations of CYP 21 A2 gene accounts for all cases of 21 Hydroxylase deficiency. DIAGNOSIS. Screening of newborns for 21 Hydroxylase deficiency. Prenatal diagnosis by chorionic villus sampling. TREATMENT. CAH CANNOT BE CURED , BUT CAN BE EFFECTIVELY TREATED. Treatment of classical CAH begins after birth and continued through out life. PATIENTS WITH NON CLASSICAL CAH MAY NOT REQUIRE TREATMENT. PRIMARY GOAL OF TREATMENT OF CLASSICAL CAH IS REDUCE THE EXCESSIVE ANDROGEN PRODUCTION AND REPLACE THE DEFICIENT HORMONES.. PROPER TREATMENT WITH THE CORRECT DOSAGE OF THESE HORMONES IS CRUCIAL TO PREVENT ADRENAL CRISIS AND VIRILIZATION. Glucocorticoids - to replace cortisol. Mineralocorticoids - to replace aldosterone. CAH patients are closely monitored during stress and surgery to adjust the dosage of hormones. Female classical CAH patients undergo surgery for correction of ambiguous genitilia.



Thanks for sharing. To add some facts: 1- Penoscrotal hypospadias is associated with 5 alpha reductase deficiency. 2. Treatment to be continued during pregnancy only if the fetus is male. No medication needed when the fetus is female

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