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All about congenital adrenal hyperplasia types of congenital adrenal hyperplasia causes of congenital adrenal hyperplasia symptoms of congenital adrenal hyperplasia diagnosis of congenital adrenal hyperplasia treatments for congenital adrenal hyperplasia

What types of congenital adrenal hyperplasia are there?

Cortisol is an adrenal steroid hormone necessary for life; production begins in the second month of fetal life. Inefficient cortisol production results in rising levels of ACTH, which in turn induces overgrowth (hyperplasia) and overactivity of the

steroid-producing cells of the adrenal cortex. The defects causing adrenal hyperplasia are congenital (i.e., present at birth).

Cortisol deficiency in CAH is usually partial, and not the most serious problem for an affected person. Synthesis of cortisol shares steps with synthesis of mineralocorticoids such as aldosterone, androgens such as testosterone, and estrogens such as estradiol. The resulting excessive or deficient production of these three classes of hormones produce the most important problems for people with CAH. Specific enzyme inefficiencies are associated with characteristic patterns of over- or underproduction of mineralocorticoids or sex steroids.

In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH. Unless another specific enzyme is mentioned, "CAH" in nearly all contexts refers to 21-hydroxylase deficiency. Congenital adrenal hyperplasia (CAH) is an inherited group of disorders which involves any one of the enzymes necessary for the manufacture of cortisol by the adrenal glands. The symptoms of CAH depend on the particular enzyme deficiency. In more than 90 per cent of cases, the steroid 21 hydroxylase is the defective enzyme involved; 21 hydroxylase deficiency or 'classic CAH' is the name given to the most common presentation of the disorder. The effect of this defective enzyme is a blockage in the production of cortisol, overproduction of androgens and, in approximately 75 per cent of cases, an inability to produce the sodium-regulating hormone, aldosterone.

Severe 21-hydroxylase deficiency causes salt-wasting CAH, with life-threatening vomiting and dehydration occurring within the first weeks of life. Severe 21-hydroxylase deficiency is also the most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants. Moderate 21-hydroxylase deficiency is referred to as simple virilizing CAH; and typically is recognized by causing virilization of prepubertal children. Still milder forms of 21-hydroxylase deficiency are referred to as non-classical CAH and can cause androgen effects and infertility in adolescent and adult women.

More information on congenital adrenal hyperplasia

What is congenital adrenal hyperplasia? - Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands.
What types of congenital adrenal hyperplasia are there? - In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH.
What causes congenital adrenal hyperplasia? - Congenital adrenal hyperplasia is an inherited disorder. This particular group of genes contains instructions that the adrenal glands need in order to produce 21-hydroxylase.
What are the symptoms of congenital adrenal hyperplasia? - Female children with severe CAH might be born with male genitals. All children with severe CAH have masculine features. The adult onset form is far less severe than the childhood version.
How is congenital adrenal hyperplasia diagnosed? - Congenital adrenal hyperplasia is diagnosed by a careful examination of the genitals and blood and urine tests that measure the hormones produced by the adrenal gland.
What're the treatments for congenital adrenal hyperplasia? - The goal of treatment for congenital adrenal hyperplasia is to return the androgen levels to normal. Patients with CAH should see a pediatric endocrinologist frequently. 
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Topics in endocrine disorders

Adrenal insufficiency
Addison's disease
Congenital adrenal hyperplasia
Conn's syndrome
Cushing's syndrome
Nelson's syndrome
Pheochromocytoma
Bartter's syndrome
Neuroblastoma
Adrenocortical carcinoma
Hypoglycemia
Insulinoma
Rickets
Osteomalacia
Hyperparathyroidism
Hypoparathyroidism
Pituitary gland disorders
Thyroid gland disorders


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