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17-hydroxyprogesterone (17-OHP)

17-hydroxyprogesterone (17-OHP)

This is the chemical that cortisol is made from. Children and adults with congenital adrenal hyperplasia (CAH) have much higher levels of 17-OHP in their blood because they cannot turn it into cortisol. Detecting increased amounts of 17-OHP in the blood is one of the tests that confirm the diagnosis of CAH.

21-hydroxylase (21-OH)

21-hydroxylase (21-OH)

This is an enzyme made by the body. It helps make cortisol and aldosterone. The enzyme is found in the adrenal glands and is essential in making the amounts of cortisol and aldosterone needed by the body.

21-hydroxylase deficiency (21-OHD)

21-hydroxylase deficiency (21-OHD)

This is the most common type of inherited enzyme deficiency causing congenital adrenal hyperplasia (CAH). Children who are completely missing this enzyme, or have very little working enzyme, usually have the ‘salt-wasting’ form of classic CAH. Children who have a reduced level of 21-OH but still make some of this enzyme usually have the ‘simple-virilizing’ form of classic CAH.

Acylcarnitine

Acylcarnitine

Our bodies break down the fat that we eat into substances called fatty acids. Fatty acids are then broken down even further into substances called acylcarnitines. Acylcarnitines are used to create energy for the body.

Acylcarnitine Profile

Acylcarnitine Profile

This is a blood test that can be used to diagnose certain fatty acid oxidation and organic acid disorders. Fatty acids get broken down into substances called acylcarnitines. These substances are then used to create energy for the body. Certain fatty acid oxidation disorders cause changes in the usual pattern of acylcarnitines.

Adrenal crisis

Adrenal crisis

This is a life-threatening state in which the body is not making enough cortisol. Babies with classic CAH may have frequent adrenal crises if they are not treated. They are also at risk for adrenal crises during illness or times of stress if their medication is not increased. Symptoms of adrenal crisis include: dizziness, paleness and sweating (if blood sugar is low), abdominal pain, vomiting, low blood pressure, dehydration, confusion, rapid heart beat, and, if not treated, coma and possibly…

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Adrenal glands

Adrenal glands

The adrenals are a pair of glands near the kidneys that make three types of hormones important in helping the body function normally. The main hormones made in the adrenal glands are cortisol, aldosterone and sex-hormones such as estrogen, progesterone, and male-like androgens (including testosterone). When the adrenal glands make more or less of one or more of these hormone, health problems occur.

Adrenals

Adrenals

The adrenals are a pair of glands near the kidneys that make three types of hormones important in helping the body function normally. The main hormones made in the adrenal glands are cortisol, aldosterone and sex-hormones such as estrogen, progesterone, and male-like androgens (including testosterone). When the adrenal glands make more or less of one or more of these hormone, health problems occur.

Affected family member

Affected family member

A family member who has the disease or medical condition in question.

Aldosterone

Aldosterone

This is a hormone made in the adrenal glands. It helps the body keep a normal amount of salt and water in the blood. This keeps the blood pressure at a normal level. High levels of aldosterone cause too much salt and water to be kept in the blood and causes high blood pressure. Low levels of aldosterone cause the kidney to remove too much salt and water from the blood and excrete it in the urine. This causes dehydration…

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