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21-Hydroxylase Deficiency clinical trials

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NCT ID: NCT01862380 Active, not recruiting - Clinical trials for Adrenal Hyperplasia, Congenital

Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency.

Start date: February 2013
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT01495910 Completed - Clinical trials for 21-hydroxylase Deficiency

A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency

Start date: December 2011
Phase: Phase 1
Study type: Interventional

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.

NCT ID: NCT00542841 Completed - Clinical trials for 21-hydroxylase Deficiency

Examining Genetic Differences Among People With 21-Hydroxylase Deficiency

Start date: August 2007
Phase: N/A
Study type: Interventional

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. This, in turn, causes the development of mature masculine characteristics in newborn, prepubescent, and grown females and in prepubescent males. 21OHD is known to be caused by the mutation of a specific gene. However, symptom severity among people with 21OHD varies, and adults seem to be less affected than children. This study will examine participants' DNA to determine what other genes may affect the severity of 21OHD and may make the disease milder in adults than in children.

NCT ID: NCT00519818 Completed - Clinical trials for Congenital Adrenal Hyperplasia

Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia

Start date: August 2007
Phase: Phase 1/Phase 2
Study type: Interventional

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.