Complete Information on Congenital Adrenal Hyperplasia

By: Juliet Cohen

CAH is a genetic defect of the adrenal glands. People with this condition do no produce enough of the hormones cortisol and aldosterone, and produce too much of androgen. It affects both males and females. In children and adults with congenital adrenal hyperplasia, the adrenal glands, a pair of walnut-sized organs above your kidneys, typically don't produce enough of the hormone cortisol. Congenital adrenal hyperplasia may also result in the adrenals manufacturing abnormal levels of two other classes of hormones ,mineralocorticoids (for example, aldosterone) and androgens.

Newborn girls with this disorder get a bloated clitoris with the urethral beginning at the home (uncertain genitals, frequently appearing more masculine than feminine. The domestic structures of the feminine reproductive parcel are natural. Some forms of inborn adrenal hyperplasia are more serious and induce adrenal crisis in the newborn payable to salt atrophy. In this salt-losing kind of inborn adrenal hyperplasia, newborns produce serious symptoms soon after birth, including vomiting, dehydration, electrolyte changes, and cardiac arrhythmias. Untreated, this circumstance can head to death within 1 to 6 weeks after birth.

About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia. Congenital adrenal hyperplasia occurs among people of all races. Mild forms of the disease result in symptoms such as severe acne, excess facial and/or body hair, early development of pubic hair, receding scalp hairline, menstrual disturbances in females. More severe forms of the disorder can result in ambiguous genitalia in a newborn girl, as well as severe salt and hormonal imbalances in both girls and boys. Congenital adrenal hyperplasia secondary to CYP21 deficiency is particularly common among the Yupik Eskimos.

Congenital adrenal hyperplasia are usually treated by use of medication. Oral corticosteroid therapy corrects the endocrine deficiency. Prenatal therapy with a synthetic hormone called dexamethasone throughout pregnancy can allow proper development of the external genitalia in female fetuses. Reconstructive surgery for girls with masculine external genitalia is usually performed between the ages of 1 and 3 months to correct the abnormal appearance. A mineralocorticoid is required in the salt-losing form. Genetic counseling is indicated for parents with a family history of congenital adrenal hyperplasia.

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