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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 are the symptoms of congenital adrenal hyperplasia?

Congenital adrenal hyperplasia is an inherited disorder. It is a recessive disease, which means that a child must inherit one copy of the defective gene from each parent who is a carrier; when two carriers have children, each pregnancy carries a 25%

risk of producing an affected child.

Female children with severe CAH might be born with male genitals. All children with severe CAH have masculine features (such as excess facial hair), grow quickly but stop growing before they should, have difficulty fighting off even small infections and may have trouble keeping enough salt in their bodies.

However, people with mild CAH are sometimes never diagnosed. They may be shorter than either of their parents, yet still be of normal height. They may have acne and blood pressure problems. When they get colds and sinus infections they don't get better as quickly as other people do. Women with mild CAH may have genitals that don't look like other women's genitals. They may have square shoulders and narrow hips. Sometimes they have too much hair on their faces. Women with mild CAH often have irregular periods. They often have trouble getting pregnant.

The adult onset form is far less severe than the childhood version and usually never produces salt wasting. Often cortisol production is only slightly sluggish and only causes bother during stress such as illness or injury. Patients however may feel tired and listless at all times. The real trouble arises from the over production of the androgen. In the male this is unlikely to be ever noticed but the women certainly notices a change.

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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