View clinical trials related to Adrenal Hyperplasia, Congenital.
Filter by:The aim of this study is to compare the effects of tablet treatment, circadian and combined circadian and ultradian subcutaneous hydrocortisone infusion on steroid metabolism and tissue responses to therapy.
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g., should there be surgery? what kind? when?) are not obvious. While there have been large advances in diagnostic assessments like genetic and endocrine testing, the tests do not always show what caused the DSD. And, even when the tests do reveal an explanation for the DSD, knowing what happened genetically or hormonally does not usually lead to a single "correct" treatment plan. Instead, it is likely that there are different acceptable treatment options - and parents will need to make decisions based, in part, on their personal preferences, values, and cultural background. Adding more stress to the situation is knowledge that many of the decisions that need to be made by parents early in a child's life are irreversible and exert life-long consequences for the child and the family. To support parents becoming actively involved in making such decisions, and to reduce the likelihood of future worry and regret about decisions that have been made, the investigators will create a decision support tool (DST). The DST will help educate families about typical and atypical sex development of the body, the process by which DSD are diagnosed (especially how to interpret genetic test results), and possible relationships between diagnostic/genetic testing, decisions about care, and known consequences of those decisions on their child and entire family. The DST will be used by parents of young children together with their child's health care provider. The investigators will bring together a network of researchers, health care providers, representatives of patient support and advocacy organizations, and parents of children with DSD to share their experiences. Participants of this network will be involved at each stage of creating the DST, revising it, and putting it into practice. At the end of this project, the investigators will have a fully formed DST that will be available for parents to use with their child's healthcare team as they are first learning their child may have a DSD.
The risk of adrenal insufficiency in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is not well documented. Indication of cortisol replacement therapy in situation of acute stress or at long term is thus controversial. The mineralocorticoid reserve of these patients has never been evaluated. Hypothesis: The glucocorticoid and mineralocorticoid function of the adrenal glands in women with nonclassical 21-hydroxylase deficiency is comparable with the adrenal functions of healthy age- sexe- and BMI-matched subjects.
Background: - Congenital adrenal hyperplasia (CAH) is a genetic disorder of the adrenal gland. The adrenal gland is located in the abdomen and produces small amounts of hormones such as cortisol, aldosterone, and androgen. These hormones help control blood pressure, protect the body, and maintain good health, especially during development. People with CAH do not make enough cortisol and aldosterone, and make too much androgen. This can lead to serious medical problems. The standard treatment is to take pills that mimic the effects of cortisol and aldosterone. However, treatment with pills can have long-term side effects because of the higher doses needed, and may not work well for some people. - A possible new treatment for CAH is to use a pump to deliver cortisol under the skin. Similar pumps are often used to give insulin to people with diabetes. Researchers think that a cortisol pump might be able to help the body use the cortisol more effectively than taking pills. They want to compare the results of a cortisol pump and standard pill treatments for CAH. Objectives: - To compare the effectiveness of a cortisol pump with standard cortisol pill therapy for CAH. Eligibility: - Men and women at least 18 years of age who have CAH (see more details in Eligibility section below). Design: - This study will involve four inpatient hospital stays at the National Institutes of Health in Bethesda, MD over 6 months (spaced 2 months apart). The first and last stays will last about 5 days. The second and third stays will last about 3 days. - Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. - At the first study visit, participants will provide regular blood and urine samples. They will also have imaging studies. These studies will look at the bones, fat, and muscles in the abdomen and pelvis. - Participants will receive a cortisol pump during the first visit. They will be shown how to use the pump. They will also learn what to do, if they need to take extra "stress dose" cortisol pills. - At the second and third visits, the cortisol dose given with the pump will be adjusted as needed. Blood and urine samples will also be collected. No imaging studies are scheduled for these visits. - The last study visit will have the same tests as the first visit. Participants will be offered the chance to continue with the pump treatment for 1 more year, or go back to their standard pill treatment. Study type: Interventional non-randomized trial Official title: A Pilot Study Assessing the use of Continuous Subcutaneous Hydrocortisone Infusion In the Treatment of Congenital Adrenal Hyperplasia Estimated enrollment: 8 Study Start Date: May 2013 Estimated Study Completion Date: December 2016 Sponsoring Institute: National Institute of Child Health and Human Development <TAB>ELIGIBILITY Inclusion criteria 1. Men and women 18 years of age or older with classic congenital adrenal hyperplasia (21-Hydroxylase deficiency) 2. High adrenal androgens in the blood, and 3. One or more of the following conditions: obesity, fatty liver, risk for diabetes, low bone mass, inability to tolerate cortisol pills Exclusion criteria 1. Pregnancy 2. Breast feeding 3. Use of inhaled or oral steroids for diseases other than CAH 4. Use of estrogen-containing birth control pills 5. Use of medicines that cross-react with hydrocortisone 6. Use of stress dose steroids for illness during the last 30 days prior to joining the study
Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease. Long-term treatment, in particular the chronic (over-)treatment with glucocorticoids, may have an adverse effect on the cardiovascular risk profile in adult CAH patients. The objective of this study was to evaluate the cardiovascular risk profile of adult CAH patients.
The conventional glucocorticoid replacement therapy in congenital adrenal hyperplasia (CAH) renders the cortisol levels unphysiological, which may cause symptoms and long-term complications. Glucocorticoid replacement is technically feasible by continuous subcutaneous hydrocortisone infusion (CSHI), and can mimic the normal diurnal cortisol rhythm. This method was recently applied to treat a patient through a critical phase of puberty. This is a clinical trial aiming to evaluate CSHI treatment in patients with CAH. The main objective is to determine the effects of CSHI on metabolic parameters (androstenedione and 17-hydroxyprogesterone profiles, and testosterone,adrenocorticotropic hormone(ACTH), cortisol, and bone markers), and to determine the required glucocorticoid doses. Secondary objectives are to determine effects on clinical status, body weight, blood pressure and other metabolic parameters, as well as on subjective health status (AddiQoL, SF36).
The purpose of this study is to gather safety and effectiveness information about a new formulation of Hydrocortisone (Chronocort®) used to treat patients with a disease called congenital adrenal hyperplasia (CAH). Hydrocortisone is the man-made version of the hormone cortisol, which is released in the body following a regular daily pattern. The objective of the study is to measure the levels of hydrocortisone that are absorbed into the bloodstream once Chronocort® is taken and what affects it has on other hormones in the body. Since Chronocort® is anticipated to mimic the same release pattern of cortisol in the body, it is hoped that patients with CAH will be treated more effectively to manage their disease.
The purpose of this study is to determine the minimum dose of abiraterone acetate needed to decrease serum androstenedione to age-appropriate levels in premenopausal women on steroid replacement for classic 21-hydroxylase deficiency.
The purpose of this study is to assess the agreement of clinical performance between the proposed NeoPlex 4 assay and NeoPlex System and the comparator devices in clinical use in newborn screening programs for detection of T4, TSH, 17-OHP and IRT.
Background: - Polycystic ovarian syndrome (PCOS) is a group of disorders related to problems with the secretion of certain hormones, which can lead to reproductive and other issues in women. Frequent complications of PCOS include irregular menstruation, development of ovarian cysts, and insulin resistance. The adrenal glands, which sit on top of the kidney, are involved in the production of certain hormones and the regulation of steroid levels in the blood, and may be affected in women with PCOS. Researchers are interested in studying possible connections between the adrenal glands and PCOS in young women who have been diagnosed with PCOS and healthy volunteers with normal menstrual function. Objectives: - To investigate possible connections between adrenal gland steroid hormone secretion and polycystic ovarian syndrome. Eligibility: - Women between 16 and 29 years of age who have been diagnosed with PCOS, or who are healthy volunteers with normal menstrual function. - Participants must be willing to discontinue the use of oral contraceptives or any other medications that alter steroid hormone production for at least 1 month before the start of the study. Design: - Participants will be screened with a physical examination, medical history, and blood and urine tests. All participants will also have a pelvic (ovarian) ultrasound. - All participants will be admitted to the hospital for a 1-week testing period, which will involve the following tests: - Regular blood draws for two 2-hour periods (late evening and early morning) to measure hormone levels - Fasting blood draws with a dose of corticotropin to test the body's adrenal function - Hormone level measurement following regular doses of dexamethasone (a drug that controls the function of the adrenal gland) - Daily urine collection for 6 days. - Other studies, such as imaging studies of the adrenal glands, may be conducted as required by the study researchers.