17-hydroxycorticosteroids 17-OH corticosteroids; 17-OHCS
How the test is performed: A 24-hour urine sample is needed. On day 1, urinate into the toilet when you get up in the morning. Collect all urine in a special container for the next 24 hours.
17-ketosteroids 17-ketosteroids are substances that form when the body breaks down male steroid sex hormones called androgens and other hormones released by adrenal cortex. This article discusses the laboratory test used to measure the amount of 17-ketosteroids in a urine sample.
How the test is performed: A 24-hour urine sample is needed. On day 1, urinate into the toilet when you get up in the morning. Afterwards, collect all urine in a special container for the next 24 hours.
17-OH progesterone 17-hydroxyprogesterone; Progesterone - 17-OH
How the test is performed: Blood is drawn from a vein, usually from the inside of the elbow or the back of the hand. The puncture site is cleaned with antiseptic. An elastic band is placed around the upper arm to apply pressure and cause the vein to swell with blood.
24-hour urinary aldosterone excretion rate Aldosterone - urine
How the test is performed: A 24-hour urine sample is needed. On day 1, urinate into the toilet when you get up in the morning.
24-hour urine copper test Quantitative urinary copper
How the test is performed: A 24-hour urine sample is needed. On day 1, urinate into the toilet upon arising in the morning. Collect all subsequent urine (in a special container provided by your doctor's office or lab) for the next 24 hours. On day 2, urinate into the container in the morning upon arising. Cap the container.
24-hour urine protein Urine protein - 24 hour
How the test is performed: A 24-hour urine sample is needed. On day 1, urinate into the toilet when you get up in the morning. Afterwards, collect all urine in a special container for the next 24 hours. On day 2, urinate into the container when you get up in the morning.
25-hydroxy vitamin D test 25-OH vitamin D test; Calcidiol 25-hydroxycholecalciferol test
How the test is performed: Blood is typically drawn from a vein, usually from the inside of the elbow or the back of the hand.
5'-nucleotidase 5'-NT
How the test is performed: Blood is drawn from a vein, usually from the inside of the elbow or the back of the hand. The site is cleaned with germ-killing medicine (antiseptic). The health care provider wraps an elastic band around the upper arm to apply pressure to the area and make the vein swell with blood.
5-HIAA HIAA; 5-hydroxyindole acetic acid; Serotonin metabolite
How the test is performed: The health care provider may tell you to stop taking drugs that can interfere with the test. A 24-hour urine sample is needed: On day 1, urinate into the toilet when you wake up in the morning.
Aarskog syndrome Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.
Causes, incidence, and risk factors: Aarskog syndrome is a genetic disorder. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).
Symptoms: Belly button that sticks out Bulge in the groin or scrotum (inguinal hernia ) Delayed sexual maturation Delayed teeth Downward palpebral slant to eyes Hairline with a "widow's peak" Mildly sunken chest ( pectus excavatum ) Mild to moderate mental problems Mild to moderate short stature which may not be obvious until the child is 1 - 3 years old Poorly developed midportion of the face Rounded face "Shawl" scrotum , testicles that have not come down (undescended) Short fingers and toes with mild webbing Single crease in palm of hand Small, broad hands and feet with short fingers and curved-in 5th finger Small nose with nostrils tipped forward Top portion of the ear folded over slightly Wide groove above the upper lip, crease below the lower lip Wide-set eyes with droopy eyelids
Signs and tests: Genetic testing for mutations in the FGDY1 gene X-rays
Treatment: Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
