health care  
 
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

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. A number of states in the United States perform a hormonal test (a heel prick blood test) for CAH and other inherited diseases within a few days of birth. In questionable cases, genetic testing

can provide a definitive diagnosis. For some forms of CAH, prenatal diagnosis is possible through chronic villus sampling in the first trimester and by measuring certain hormones in the amniotic fluid during the second trimester.

Children with CAH are treated urgently because the majority (75 percent) of these children are so-called "salt wasters." This means that the adrenal gland is not putting out enough of the mineral corticoid, which can cause the baby to rapidly lose salt. These babies require urgent steroid replacement or they could be at risk for going into shock.

If doctors suspect CAH on the initial newborn exam, the baby will be examined by pediatric specialists in urology and endocrinology right away. An accurate diagnosis can be made only after doctors take a detailed family history and perform a series of exams and tests that could take several days.

The examination includes a pelvic ultrasound. Here, doctors will look for female reproductive structures, such as a cervix, fallopian tubes and a uterus. The baby will also undergo a series of blood tests, including a test to determine the level of sex hormones in the blood as well as a chromosonal analysis (called karyotyping) to determine the genetic sex of the baby.

Some babies may need to undergo a genitogram, which allows doctors to visualize the outline of the reproductive structures. For this test, a contrast agent is injected into the reproductive tract and under X-ray imaging, doctors can visualize the outline of the reproductive system. In some cases, doctors will want to perform a gonadal biopsy.

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. 
Endocrine disorders Mainpage

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


All information is intended for reference only. Please consult your physician for accurate medical advices and treatment. Copyright 2005, health-cares.net, all rights reserved. Last update: July 18, 2005