View clinical trials related to Adrenal Hyperplasia, Congenital.
Filter by:This study will evaluate and gather information in patients with genetic causes of too much androgen (male-like hormone) in order to better understand the effects of too much androgen and describe problems associated with it. Too much androgen in childhood, if untreated, results in rapid growth and early puberty with early cessation of growth and short stature in adulthood. Too much androgen in adulthood may result in infertility, and women may have excess facial hair, acne and a more male-like appearance. Excess androgen may also affect mood and behavior and possibly the secretion of other hormones, such as insulin. Two genetic diseases that result in early childhood androgen excess are congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Patients with known or suspected CAH due to 21-hydroxylase deficiency, 11- hydroxylase deficiency, or 3-beta-hydroxysteroid dehydrogenase deficiency and males with known or suspected FMPP may be eligible for this study. Patients with both classic and non-classic CAH are eligible, and patients with androgen excess of unknown cause may be eligible. Participants undergo the following procedures: - Medical history and physical examination. - Fasting blood tests for analysis of hormones, blood chemistries including blood sugar and cardiovascular risk factors such as lipids. - Oral glucose tolerance test for patients with elevated insulin levels. For this test, a catheter (plastic tube) is placed in a vein in the patient's arm. The patient drinks a sugar-containing fluid and blood samples are collected through the catheter at intervals starting with drinking the solution, and then 30, 60 and 120 minutes after drinking the solution. - 24-hour urine collection to measure hormone levels in the urine. - DNA testing for patients with 21-hydroxylase deficiency to help identify the type of genetic mutation responsible for the disease. - X-ray of the left hand to measure bone age in growing children. The x-ray is used to determine how far into puberty the child is and how much growth potential is left in the bones. - A pelvic ultrasound in females and testicular ultrasound in males to evaluate the size and development of the gonads (ovaries in females and testes in males). - Cognitive and psychological tests, including an IQ test and evaluation of memory, achievement and behavior. - Other tests and evaluations based on medical need. The schedule for these procedures varies. In a part of the study involving only patients with CAH, growing children are evaluated twice (once in childhood and once after reaching adult height), and adults are evaluated once. In another part of the study involving patients with CAH and FMPP, growing children are seen twice a year, and adults and children who have reached adult height may be seen annually. Additional visits may be scheduled if medically indicated. In this part of the study, females are asked to keep a record of their periods after their first menstrual cycle.
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
Congenital adrenal hyperplasia, an autosomal recessive condition, is mainly caused by mutations in the gene 21-hydroxylase and is treated with glucocorticoids in a slightly supraphysiological dose. Adult patients seem to be characterized by insulin resistance, which may be caused by the glucocorticoids and/or the accompanying obesity. The hypothesis of this study is that pioglitazone can improve insulin sensitivity and correlated cardiovascular risk factors in this specific group of patients. This will be tested in a randomized, placebo-controlled, cross-over trial; insulin sensitivity will be quantified by euglycemic hyperinsulinemic clamp studies.
This study will examine and compare the effects of intense exercise on the release of catecholamines in patients with congenital adrenal hyperplasia (CAH) and in healthy persons. Catecholamines are hormones (adrenaline and noradrenaline) that are produced by the adrenal glands and released into the blood stream during stress, such as trauma, illness, intense exercise, or low blood sugar. The study will also assess exercise tolerance in patients with CAH, compared with healthy persons. Patients with CAH between the ages of 10 and 40 years who are managing well on standard treatment (glucocorticoids, mineralocorticoids) may be eligible for this study. Healthy volunteers that match the enrolled patients in age, sex, race and body fat will be recruited as control subjects. All candidates will be screened with a medical history, physical examination and electrocardiogram (EKG). Body fat will be measured using an instrument called a Bod Pod. The body fat measurement has two parts: first, the subject sits quietly in a large egg-shaped capsule for about 2 to 3 minutes; then the subject breathes into a plastic tube for one minute, followed by three quick panting breaths. Women will have a urine pregnancy test; pregnant women cannot participate in the study. Participants will undergo three exercise sessions on separate consecutive mornings after fasting overnight. Before each test, patients (not healthy volunteers) will take either an additional morning dose of hydrocortisone or a placebo (a lookalike pill with no active ingredient). Before each test a thin catheter (plastic tube) will be placed into an arm vein through a needle. A numbing cream can be applied to make the needle stick hurt less. Blood will be drawn through this intravenous (IV) line before, during and after the exercise tests. The first test is a maximal exercise test to determine the individual's maximum exercise fitness capacity. The second two and third tests are a standardized exercise tests. Before the two standardized tests, patients (not healthy volunteers) will take either an additional morning dose of hydrocortisone or a placebo (a lookalike pill with no active ingredient). All tests are done on a stationary bicycle. Maximal Exercise Test - The subject pedals on a stationary bicycle for about 10 minutes. After a 3-minute warm-up, the workload is increased continuously until either the subject can no longer continue or the physician stops the test for medical reasons. During the exercise, heart rate and heart activity are monitored with an EKG, and the subject wears a nose clip and mouthpiece connected to a breathing tube to measure oxygen use. Blood is drawn before and during the test, totaling no more than 2 tablespoons. Standardized Exercise Test - The subject pedals on a stationary bicycle for 20 minutes, while wearing the nose clip and mouthpiece to measure oxygen use. For the first 5 minutes, the subject pedals at a speed that elicits 50 percent of maximal effort (determined by the maximal exercise test); the next 10 minutes are at 70 percent of maximal effort; and the last 5 minutes are at 90 percent. Blood samples drawn before, during (at 15 and 20 minutes) and after exercise (at 30, 40 and 60 minutes) total less than 1/2 cup. Heart rate and heart activity are monitored during the test with an EKG, and temperature is measured before and at the end of the test.
This study was developed to determine if a combination of four drugs (flutamide, testolactone, reduced hydrocortisone dose, and fludrocortisone) can normalize growth in children with congenital adrenal hyperplasia. The study will take 60 children, boys and girls and divide them into 2 groups based on the medications given. Group one will receive the new four- drug combination. Group two will receive the standard treatment for congenital adrenal hyperplasia (hydrocortisone and fludrocortisone). The boys in group one will take the medication until the age of 14 at which time they will stop taking the four drug combination and begin receiving the standard treatment for congenital adrenal hyperplasia. Girls in group one will take the four drug combination until the age of 13, at which time they will stop and begin receiving the standard treatment for congenital adrenal hyperplasia plus flutamide. Flutamide will be given to the girls until six months after their first menstrual period. All of the children will be followed until they reach their final adult height. The effectiveness of the treatment will be determined by measuring the patient's adult height, body mass index, and bone density. <TAB>...
This study will test the ability of extended release nifedipine (Procardia XL), a blood pressure medication, to permit a decrease in the dose of glucocorticoid medication children take to treat congenital adrenal hyperplasia (CAH).