robertaThis is long but print it and take it to the doctor. I found that it is good to have information in writing to ask questions. This is about what tests are needed for CAH. Most ped endo won't do the urine tests because they don't want to collect the urine for a baby but you have an older child.... I would ask about these tests. Another thing about CAH if it is not treated ... then infertily.
http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm
Signs and tests
- ELEVATED URINARY
17-KETOSTEROIDS
Definition
A test that measures the amount of 17-ketosteroids in urine.
How the test is performed
A 24-hour urine sample is needed.
The health care provider will instruct you, if necessary, to discontinue drugs that may interfere with the test.
- On day 1, urinate into the toilet upon arising in the morning.
- Collect all subsequent urine (in a special container) for the next 24-hours.
- On day 2, urinate into the container in the morning upon arising.
- Cap the container. Keep it in the refrigerator or a cool place during the collection period. Label the container with your name, the date, the time of completion, and return it as instructed.
Deliver it to the laboratory or your health care provider as soon as possible upon completion.
The lab analyzes the sample for the amount of 17-ketosteroids.How to prepare for the test
No special preparation is necessary for this test, but if the collection is being taken from an infant, a couple of extra collection bags may be necessary.
How it feels
The test involves only normal urination, and there is no discomfort.
Risks
There are no risks.
Why the test is performed
This test may be performed when any of the disorders associated with abnormal levels of the "male" steroid sex hormones (androgens) are suspected.
17-ketosteroids are metabolites (break-down products) of androgens that are secreted from the adrenal cortex and testes. In men, about one-third of the hormone metabolites come from the testes and two-thirds from the adrenal cortex. In women and children, almost all androgens are derived from the adrenal cortex.Normal values
male: 8 to 20 mg/24 hr
female: 6 to 12 mg/24 hr
Note: mg/24 hr = milligrams per 24-hours
- NORMAL OR DECREASED URINARY
17-HYDROXYCORTICOSTEROIDSAlternative names
17-OHCS
Definition
A test that measures the amount of 17-OHCS in urine.
How the test is performed
A 24-hour urine sample is needed.
The health care provider will instruct you, if necessary, to discontinue drugs that may interfere with the test.
- On day 1, urinate into the toilet upon arising in the morning.
- Collect all subsequent urine (in a special container) for the next 24-hours.
- On day 2, urinate into the container in the morning upon arising.
- Cap the container. Keep it in the refrigerator or a cool place during the collection period. Label the container with your name, the date, the time of completion, and return it as instructed.
Infant:
Thoroughly wash the area around the urethra. Open a urine collection bag (a plastic bag with an adhesive paper on one end), and place it on your infant. For males, the entire penis can be placed in the bag and the adhesive attached to the skin. For females, the bag is placed over the labia. Place a diaper over the infant (bag and all). The infant should be checked frequently and the bag changed after the infant has urinated into the bag. For active infants, this procedure may take a couple of attempts--lively infants can displace the bag, causing an inability to obtain the specimen. The urine is drained into the container for transport to the laboratory.
Deliver it to the laboratory or your health care provider as soon as possible upon completion.
The lab analyzes the sample for the amount of 17-OHCS.How to prepare for the test
The health care provider will instruct you, if necessary, to discontinue drugs that may interfere with the test.
If the collection is being taken from an infant, a couple of extra collection bags may be necessary.How it feels
The test involves only normal urination, and there is no discomfort.
Risks
There are no risks.
Why the test is performed
Cortisol is a steroid hormone released from the adrenal cortex in response to adrenocorticotrophic hormone (ACTH). Normally, cortisol levels rise and fall during the day (diurnal variation). The highest levels are seen around 6 a.m. to 8 a.m. and the lowest levels are around midnight.
Cortisol levels increase between meals and trigger the release of amino acids from skeletal muscles and fatty acids from adipose (connective) tissue. The amino acids are absorbed by the liver and converted to glucose. This is subsequently secreted into the blood to be used for energy by certain tissues such as the brain and red blood cells. The fatty acids released from the adipose tissue are used for energy by skeletal muscles, thus sparing the available glucose for use by the brain.
Cortisol (or other glucocorticoids) in pharmacological doses reduces inflammation and inhibits the immune response. Even at physiological concentrations (normal levels), cortisol probably has an effect on the immune system and the inflammatory response, especially in people subject to chronic stress. This is because stress, in general, stimulates increased release of ACTH and secondarily releases cortisol. These individuals have chronically elevated levels of cortisol.
Normally, cortisol and ACTH reciprocally regulate each other’s concentration in the blood (that is cortisol levels decrease, which causes an increase in ACTH secretion). This causes an increase in cortisol synthesis, which inhibits release of ACTH. Diseases of the pituitary and adrenal glands upset this relationship.
Some fraction of plasma cortisol is also metabolized by the liver and other tissues to inactive products such as 17-OHCS, which are excreted by the body in the urine.Normal values
male: 4.5 to 10 mg/24 hr
female: 2.5 to 10 mg/24 hr
Note: mg/24 hr = milligrams per 24-hoursElevated levels of 17-OHCS may indicate:
acromegaly Cushing’s syndrome caused by congenital adrenal hyperplasia or tumor
Cushing’s syndrome caused by pituitary tumorectopic ACTH-producing tumor severe physical or emotional stressElevated levels may also exist with:
obesity pregnancy
severe hypertensionhydrocortisone therapy thyrotoxicosisLower than normal levels of 17-OHCS may indicate:
adrenal insufficiency (suppressed from steroid therapy) Addison’s disease
- adrenal hemorrhage
adrenal infarction hereditary enzyme deficiency hypopituitarismsurgical removal of the adrenal gland hypothyroidismSpecial considerations
Severe emotional or physical stress can affect the result.
Drugs that can increase 17-OHCS measurements include acetazolamide, chloral hydrate, chlorpromazine, colchicine, erythromycin, meprobamate, paraldehyde, quinidine, quinine, phenothiazines, cephalosporins, and spironolactone.
Drugs that can decrease 17-OHCS measurements include estrogens, oral contraceptives (birth control pills), carbamazepine, and reserpine.
- ELEVATED
17-OH PROGESTERONE
Alternative names
17-hydroxy progesterone; Progesterone - 17-OH
A test that measures the amount of 17-OH progesterone in serum (blood).
How the test is performed
Adult or child:
venipuncture), usually from the inside of the elbow or the back of the hand. The puncture site is cleaned with antiseptic, and a tourniquet (an elastic band) or blood pressure cuff is placed around the upper arm to apply pressure and restrict blood flow through the vein. This causes veins below the tourniquet to distend (fill with blood). A needle is inserted into the vein, and the blood is collected in an air-tight vial or a syringe. During the procedure, the tourniquet is removed to restore circulation. Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding.
Blood is drawn from a vein (
Infant or young child:
The area is cleansed with antiseptic and punctured with a sharp needle or a lancet. The blood may be collected in a pipette (small glass tube), on a slide, onto a test strip, or into a small container. Cotton or a bandage may be applied to the puncture site if there is any continued bleeding.
After the blood has been drawn, it is sent to a laboratory to be evaluated.How to prepare for the test
The health care provider will instruct you, if necessary, to discontinue drugs that may interfere with the test. These include corticosteroids and oral contraceptives. The health care provider may advise that the test be performed at a specific time of day, because this can affect the test results.
Infants and children:
The physical and psychological preparation you can provide for this or any test or procedure depends on your child’s age, interests, previous experience, and level of trust. For specific information regarding how you can prepare your child, see the following topics as they correspond to your child’s age:infant test or procedure preparation (birth to 1 year) toddler test or procedure preparation (1 to 3 years) preschooler test or procedure preparation (3 to 6 years) schoolage test or procedure preparation (6 to 12 years) adolescent test or procedure preparation (12 to 18 years)
How it feels
When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may some throbbing.
Risks
bleeding fainting or feeling lightheaded
- excessive
hematoma (blood accumulating under the skin) infection (a slight risk any time the skin is broken) multiple punctures to locate veins Why the test is performed
This test is used primarily to identify patients with
congenital adrenal hyperplasia (CAH). CAH is a rare genetic disorder that results from a deficiency of an enzyme that normally synthesizes cortisol in the adrenal gland. This deficiency results in the accumulation of precursor steroids such as 17-hydroxyprogesterone as well as abnormal levels of other steroid hormones, specifically increasing androgens and decreasing glucocorticoids.Normal values
male: 0.3 to 3.2 ng/ml
female:pregnancy, 12th week to term: 2.2 to 12.9 ng/ml
- day 1 to 10 of menstrual cycle: 0.2 to 0.7 ng/ml
- day 10 to end of menstrual cycle: 0.4 to 2.2 ng/ml
Note: ng/ml = nanograms per milliliter
What abnormal results mean
Levels higher than 20 ng/ml may indicate CAH.
Special considerations
This test is sensitive to circadian rhythms (the natural peaks and lows that the body experiences during a day).
Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others.
ELEVATED SERUM DHEA SULFATE
Alternative names
Dehydroepiandrosterone sulfate
Definition
A blood test that measures the amount of DHEA-sulfate (the androgen hormone secreted in greatest quantity by the
adrenal glands).How the test is performed
Adult or child:
venipuncture), usually from the inside of the elbow or the back of the hand. The puncture site is cleaned with antiseptic, and a tourniquet (an elastic band) or blood pressure cuff is placed around the upper arm to apply pressure and restrict blood flow through the vein. This causes veins below the tourniquet to distend (fill with blood). A needle is inserted into the vein, and the blood is collected in an air-tight vial or a syringe. During the procedure, the tourniquet is removed to restore circulation. Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding.
Blood is drawn from a vein (
Infant or young child:
The area is cleansed with antiseptic and punctured with a sharp needle or a lancet. The blood may be collected in a pipette (small glass tube), on a slide, onto a test strip, or into a small container. Cotton or a bandage may be applied to the puncture site if there is any continued bleeding.How to prepare for the test
Adult:
No special preparation is necessary.
Infants and children:
The physical and psychological preparation you can provide for this or any test or procedure depends on your child’s age, interests, previous experience, and level of trust. For specific information regarding how you can prepare your child, see the following topics as they correspond to your child’s age:infant test or procedure preparation (birth to 1 year) toddler test or procedure preparation (1 to 3 years) preschooler test or procedure preparation (3 to 6 years) schoolage test or procedure preparation (6 to 12 years) adolescent test or procedure preparation (12 to 18 years)
How it feels
When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing.
Risks
bleeding fainting or feeling lightheaded
- excessive
hematoma (blood accumulating under the skin) infection (a slight risk any time the skin is broken) multiple punctures to locate veins Why the test is performed
This test is used to evaluate the function of the
adrenal glands. DHEA-sulfate is measured in women exhibiting symptoms of virilism (male body characteristics) or hirsutism (excessive hair growth) because the adrenal gland is the major, if not the only, source of androgens (male hormones) in women. It is also measured as part of a fertility work-up, in children with precocious puberty, and to screen for rare genetic diseases resulting from deficient steroid-synthetic (create steroids) enzymes.
Measurement of DHEA sulfate is an index of adrenal androgen secretion because little of this metabolite (break-down product) is formed in the gonads (reproductive organs).Normal values
serum DHEA: 0.2 to 0.9 mcg/dl
serum DHEA sulfate: 50 to 250 mcg/dl
Note: mcg/dl = microgram per deciliterWhat abnormal results mean
abnormal adrenal androgen secretion (see "why is the test performed")
Special considerations
The principal adrenal androgens are dehydroepiandrosterone, (DHEA), androstenedione, and 11-hydroxyandrostenedione. DHEA and its sulfate are quantitatively the major androgens secreted by the adrenal gland.
Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others.
X-RAY FOR BONE AGE (DEMONSTRATES MARKEDLY ADVANCE BONE AGE ABOVE CHRONOLOGICAL AGE)
Definition
X-rays are a form of electromagnetic radiation (like light); they are of higher energy, however, and can penetrate the body to form an image on film. Structures that are dense (such as bone) will appear white, air will be black, and other structures will be shades of gray depending on density.
How the test is performed
The test is performed in a hospital radiology department or in the health care provider’s office by an X-ray technologist. The positioning of the X-ray machine depends on the film being taken. You hold your breath as the picture is taken so that the picture will not be blurry. You may be asked to change position for additional pictures.
How to prepare for the test
Inform the health care provider if you are
pregnant, have an IUD inserted, or have had a barium contrast media X-ray in the last 4 days.
If you have taken any medications such as Pepto Bismol (which contains bismuth) within 4 days mention it to the health care provider, because they may interfere with the test.
You will remove all jewelry and wear a hospital gown during the X-ray procedure. You must sign an informed consent form.How it feels
There is no discomfort.
Risks
There is low radiation exposure. X-rays are monitored and regulated to provide the minimum amount of radiation exposure needed to produce the image. Most experts feel that the risk is low compared with the benefits.
Pregnant women and children are more sensitive to the risks of the X-ray. Women should make the health care provider aware of suspected pregnancy.
For additional information regarding why the test is performed and normal and abnormal results, please see the specific X-ray topics:dental X-rays neck X-ray sinuses X-ray pelvis X-ray thoracic spine X-ray hands X-ray lumbosacral spine X-ray skull X-ray extremity X-ray bone X-ray joints X-ray chest X-ray abdominal X-ray barium X-ray gallbladder X-ray X-ray of the skeleton
Definition
X-rays are a form of electromagnetic radiation (like light); they are of higher energy, however, and can penetrate the body to form an image on film. Structures that are dense (such as bone) will appear white, air will be black, and other structures will be shades of gray depending on density.
How the test is performed
The test is performed in a hospital radiology department or in the health care provider’s office by an X-ray technologist. The positioning of the X-ray machine depends on the film being taken. You hold your breath as the picture is taken so that the picture will not be blurry. You may be asked to change position for additional pictures.
How to prepare for the test
Inform the health care provider if you are
pregnant, have an IUD inserted, or have had a barium contrast media X-ray in the last 4 days.
If you have taken any medications such as Pepto Bismol (which contains bismuth) within 4 days mention it to the health care provider, because they may interfere with the test.
You will remove all jewelry and wear a hospital gown during the X-ray procedure. You must sign an informed consent form.How it feels
There is no discomfort.
Risks
There is low radiation exposure. X-rays are monitored and regulated to provide the minimum amount of radiation exposure needed to produce the image. Most experts feel that the risk is low compared with the benefits.
Pregnant women and children are more sensitive to the risks of the X-ray. Women should make the health care provider aware of suspected pregnancy.
For additional information regarding why the test is performed and normal and abnormal results, please see the specific X-ray topics:dental X-rays neck X-ray sinuses X-ray pelvis X-ray thoracic spine X-ray hands X-ray lumbosacral spine X-ray skull X-ray extremity X-ray bone X-ray joints X-ray chest X-ray abdominal X-ray barium X-ray gallbladder X-ray X-ray of the skeleton
SERUM ELECTROLYTES (ABNORMAL IN INFANTS WITH SALT-LOSING FORM OF ADRENOGENITAL SYNDROME)
Definition
Chem-20 is a "battery" of 20 chemical tests performed on serum (the portion of blood without cells).
Electrolytes are ionized salts in blood or tissue fluids (ions are atoms or molecules that carry an electrical charge); electrolytes in the body include sodium, potassium, chlorine, and many others (see the Normal Values).How the test is performed
Adult or child:
venipuncture), usually from the inside of the elbow or the back of the hand. The puncture site is cleaned with antiseptic, and a tourniquet (an elastic band) or blood pressure cuff is placed around the upper arm to apply pressure and restrict blood flow through the vein. This causes veins below the tourniquet to distend (fill with blood). A needle is inserted into the vein, and the blood is collected in an air-tight vial or a syringe. During the procedure, the tourniquet is removed to restore circulation. Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding.
Blood is drawn from a vein (
Infant or young child:
The area is cleansed with antiseptic and punctured with a sharp needle or a lancet. The blood may be collected in a pipette (small glass tube), on a slide, onto a test strip, or into a small container. Cotton or a bandage may be applied to the puncture site if there is any continued bleeding.How to prepare for the test
Overnight fasting is preferable.
Infants and children:
The physical and psychological preparation you can provide for this or any test or procedure depends on your child’s age, interests, previous experience, and level of trust. For specific information regarding how you can prepare your child, see the following topics as they correspond to your child’s age:infant test or procedure preparation (birth to 1 year) toddler test or procedure preparation (1 to 3 years) preschooler test or procedure preparation (3 to 6 years) schoolage test or procedure preparation (6 to 12 years) adolescent test or procedure preparation (12 to 18 years)
How it feels
When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing.
Risks
bleeding fainting or feeling lightheaded
- excessive
hematoma (blood accumulating under the skin) infection (a slight risk any time the skin is broken) multiple punctures to locate veins Why the test is performed
Blood chemistry measures the levels of a number of chemical substances that are released from various tissues in the body. The amounts of these chemicals in the blood may reflect abnormalities in the tissues secreting them.
Normal values
albumin: 3.9 to 5.0 mg/dl alkaline phosphatase: 44 to 147 IU/L ALT (SGPT): 6 to 59 IU/L AST (SGOT): 10 to 34 IU/L BUN: 7 to 20 mg/dl calcium - serum: 8.5 to 10.9 mg/dl serum chloride: 101 to 111 mmol/L CO2: 20 to 29 mmol/L creatinine: 0.8 to 1.4 mg/dl direct bilirubin: 0.0 to 0.3 mg/dl gamma-GT: 0 to 51 IU/L glucose test: 64 to 128 mg/dl LDH: 105 to 333 IU/L phosphorus - serum: 2.4 to 4.1 mg/dl potassium test: 3.7 to 5.2 mEq/L serum sodium: 136 to 144 mEq/L total bilirubin: 0.2 to 1.9 mg/dl total cholesterol: 100 to 240 mg/dl total protein: 6.3 to 7.9 g/dl uric acid: 4.1 to 8.8 mg/dl
Note: ALT =
alanine transaminase, AST = aspartate aminotransferase, BUN = blood urea nitrogen, CO2 = carbon dioxide, gamma-GT = gamma-glutamyl transpeptidase, LDH = lactate dehydrogenase; IU = international unit, L = liter, dl = deciliter = 0.1 liter, mg = milligram, mmol = millimole, mEq = milliequivalents
Electrolytes:
Positively charged ions (cations) include sodium, potassium, calcium, and magnesium (usually drawn separately; see magnesium - serum).
Negatively charged ions (anions) include chloride, bicarbonate (essentially the same as CO2), protein (see total protein), phosphorous, SO4, and organic acids.
When an electrolyte test is performed, the measured ions usually include sodium, potassium, chloride, and bicarbonate; calcium and magnesium levels are also obtained in many institutions as part of this test.What abnormal results mean
See the individual tests.
Special considerations
Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others.