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This study examines the genetic differences among people with 21-hydroxylase deficiency, using a short-term withdrawal of hydrocortisone treatment. People carrying two severe CYP21A2 alleles or with a CYP21A2 mutation identified by genetic testing, who were taking hydrocortisone below a certain daily dose, could take part. This was a study without a phase and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * Diagnosis of 21OHD with two "severe" alleles, excluding the A/C656G mutation OR participant consents to genetic testing and a CYP21A2 mutation is identified * Currently a patient at one of the participating centers * Currently taking less than 15mg/m² hydrocortisone per day and has been for at least the past 3 months Exclusion Criteria: * History of adrenal crisis within 1 year prior to study entry * Any coexisting condition requiring corticosteroid therapy (e.g., asthma, psoriasis) * History of removal of both adrenal glands * History of deficient pituitary gland function * Current or past use of growth hormone therapy within 3 months prior to study entry * Serum creatinine level greater than 2 mg/dL * Systolic blood pressure less than 90 mm Hg * History of critical illness or surgery that required general anesthesia within 1 month prior to study entry