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Some states in America routinely screen a newborn infant via blood test for a condition called congenital adrenal hyperplasia (CAH), but not all states or countries do this and the test itself is imperfect and not an accurate indicator that the baby has CAH.
Congenital adrenal hyperplasia can be diagnosed by blood testing.
This is the type that occurs at birth or early infancy. Newborns with CAH are born with enlarged adrenal glands. This is because they cannot produce enough cortisol so the body tries to compensate by growing larger adrenal glands in an effort to make more cortisol.
If you have been having difficulty getting pregnant and you have some of the symptoms of CAH [link widoczny dla zalogowanych], ask your fertility specialist if he will blood test you as sometimes extra steroid is all that is needed to help you concieve.
Read on
Adrenal Disease in Pet Ferrets
Congenital Hypothyroidism
Addison's Disease
Mild Congenital Adrenal Hyperplasia
Those with a mild presentation of the disease can often have a baby, with the right treatment. CAH is easily treated with regular doses of a steroid called dexamethazone and usually after a few months of having treatment, the person is functioning normally with no symptoms of CAH.
Can Sufferers Have a Baby?
As they get older, they grow, but this usually stops before puberty, meaning that most people with CAH are of short stature. The lack of development of the reproductive system also means they will suffer from infertility.
They have poorly functioning immune systems and are suseptible to colds and other viruses and they may sometimes suffer from sodium deficency.
CAH is an inability of the adrenal glands to produce cortisol. The adrenal glands are two walnut sized organs on the top of the kidneys and they produce hormones. The inner portion of the adrenal gland is called the medulla and makes adrenaline. The outer part is called the cortex and it is the cortex that normally produces cortisol, androgens (male type hormones that both sexes produce) and aldosterone, a salt retaining hormone.
Children suffering from severe CAH often have facial hair and masculine features and baby girls born with the disorder can sometimes have genitals which look more like male genitalia.
American Family Physican information leaflet, 'Congenital Adrenal Hyperplasia: What it is and How it's Treated', 1 March 1999.
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Sometimes the baby's condition is so mild that it is not detected by a test or noticed by doctors or parents and the child can live a normal life. Discovering that they are infertile is often the first clue that something is wrong for patients with a very mild presentation of the disease.
Severe Congenital Adrenal Hyperplasia
Texas Department of State Health Services, Congenital Adrenal Hyperplasia: A Handbook For Parents -
People with mild CAH are often not diagnosed until they decide to have children and then realise they can't. They are usually of normal height compared to others and look physically normal. They often have poor immune systems and suffer more illnesses or longer lasting colds than other people, but this may be passed off as having a weak constitution. They will often have acne and may sometimes have blood pressure problems.
What is Congenital Adrenal Hyperplasia (CAH)?
Some women with CAH may have slightly abnormal looking genitals [link widoczny dla zalogowanych], but not always. These women may have irregular periods and difficulty in getting pregnant [link widoczny dla zalogowanych], but it will be the last thing a fertility specialist screens for when she seeks help.