View clinical trials related to Adrenocortical Hyperfunction.
Filter by:This is an observational study to confirm the presence of recurrent or persistent endogenous Cushing's syndrome in patients who have had primary surgical and/or radiation therapy for Cushing's disease and continue to manifest symptoms and signs of hypercortisolemia.
Congenital Adrenal Hyperplasia (CAH) is one of the commonest inherited diseases, affecting 1:14,200 live births. It is the result of a genetic defect in one of the enzymes (in most cases 21-hydroxylase) required for cortisol biosynthesis, leading to reduced levels of cortisol and aldosterone, increased ACTH concentrations and consequently increased adrenal androgen production. Patients suffer from problems with growth and development and as adults patients may have problems with fertility, virilisation in women, testicular masses in men and both men and women have an impaired quality of life. Patients have to take life-long therapy. Despite its frequency knowledge surrounding the management of adults with CAH remains fairly limited. There has been a lot of work describing the management of children with CAH but to date there is no consensus on how to manage adults. To address this issue a number of adult endocrinologists in the UK under the auspices of the Society for Endocrinology have established a country wide study (CaHASE) to undertake research in order to set standards of care for adult patients with CAH. In CAH the severity of the symptoms experienced by affected individuals varies depending on the mutation and the genetic background of the individual. The ability to tailor CAH therapy on an individual basis, as determined by the severity of the underlying defect and an understanding of the likely natural history of the disease, is a key goal in clinical management. Correlation of phenotype (clinical status) and genotype (the underlying 21 hydroxylase gene mutation) will facilitate stratification of severity and provide an important contribution to the debate on potential mechanisms of individualised therapy. For instance it may become clear that certain CAH genotypes are associated with specific long term outcomes. In time, this could lead to suggesting different treatment strategies in certain groups. Moreover, genotype data are important if we are to address the relative contribution of environment (e.g. treatment) vs. genetics on long term outcomes. This multi-centre study aims to: 1. - Investigate the medical health of adults with congenital adrenal hyperplasia. 2. - Investigate the relationship between the genotype of the patient and the phenotype. 3. - Investigate the quality of life of adults with congenital adrenal hyperplasia.
21-hydroxylase deficiency (21-OHD) is an inherited disorder that results from a mutation on the CYP21A2 gene. It affects the adrenal glands and is the most common cause of congenital adrenal hyperplasia (CAH). 21-OHD CAH causes the body to produce an insufficient amount of cortisol and an excess of androgen, the type of hormone that produces male characteristics. The primary treatment for 21-OHD CAH, glucocorticoid replacement therapy, has been shown to cause bone loss. However, the elevated hormone levels caused by 21-OHD CAH may increase production of the protein osteoprotegerin (OPG), which in turn may protect against bone loss. This study will compare bone density and OPG levels in women who have 21-OHD CAH and have undergone a lifetime of glucocorticoid replacement therapy to that in women who have neither of these criteria. In doing so, the study will aim to determine the relationship between OPG and bone loss.
The purpose of this study is to determine if dexamethasone given at night is a more effective treatment for congenital adrenal hyperplasia in young children than standard three times per day hydrocortisone. Our hypothesis is that nocturnal dexamethasone will lead to more efficient suppression of the hypothalamic-pituitary-adrenal axis. We performed a cross-over trial comparing hormonal control during two 24-hour hospitalizations, one on hydrocortisone and one on nocturnal dexamethasone.
Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects the amount of steroids that the body forms. The most common form of CAH is 21-hydroxylase deficiency (21OHD), which leads to cortisol deficiency and causes the development of mature masculine characteristics in newborn, prepubescent, and grown females, and prepubescent males. Prenatal treatment with dexamethasone, a corticosteroid, has been shown to reduce the masculinization of genitalia. However, the long-term effects of dexamethasone on the children who received it as fetuses and on mothers who were exposed to it while they were pregnant have not been determined. This study will investigate potential long-term adverse side effects of prenatal dexamethasone treatment in children and young adults who received dexamethasone as fetuses and their mothers who were exposed to it during pregnancy.
This qualitative interview-based study will investigate the impact that living with congenital adrenal hyperplasia has for women in the following areas: health-related quality of life (HRQL), psychological health, and health-seeking behaviors.
The purpose of this study is to develop a more physiological approach to the management of children and adolescents with salt wasting Congenital Adrenal Hyperplasia. We will administer the glucocorticosteroid via insulin infusion pump to see whether this treatment will improve the serum hormone concentrations.
This study will test a new, extended release form of hydrocortisone called Chronocort in patients with congenital adrenal hyperplasia (CAH). People with CAH do not make enough of the adrenal hormones cortisol and aldosterone, and their adrenal glands make too much of the sex hormone androgen. Medicines called glucocorticoids (hydrocortisone, dexamethasone and prednisone) are currently used to treat CAH, but finding the best dose of these drugs that effectively lowers androgens without causing undesirable side effects, such as weight gain and slow growth rate in children, is often difficult to achieve. Adolescents and adults with CAH due to 21-hydroxylase deficiency may be eligible for this study. Children 16 years of age and older are eligible with confirmation by bone age that they are no longer growing. Participants undergo the following tests and procedures during two inpatient visits one month apart at the NIH Clinical Center: - Medical history and physical examination. - Medications: Following 7 days of Cortef (standard drug treatment for CAH), patients begin taking Chronocort on day 3 of hospitalization and continue the tablets once a day for 1 month. - Blood tests: A catheter (plastic tube) is inserted in a vein and left in place for frequent blood draws in order to avoid repeated needlesticks. Blood is drawn for chemistries, blood count, pregnancy test in women, and for serial tests (up to 26 samples in a 24-hour period) to measure hormone levels. - 24-hour urine test. - Height and weight measurements. Between the two hospitalizations, patients are contacted by NIH weekly to check for possible side effects from Chronocort. Two weeks after the first visit, patients also will have blood drawn by their regular doctor or a local clinic. A few days before the second hospitalization, patients undergo a 20-minute telephone questionnaire about energy level and well being. About 30 days after discharge from the second hospitalization, patients are followed up with a telephone call to see how they are doing.
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.