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.

NCT00542841

Conditions

1. 21-hydroxylase Deficiency

Interventions

1. Procedure: Hydrocortisone withdrawal

MeSH:Adrenal Hyperplasia, Congenital Adrenogenital Syndrome

HPO:Adrenogenital syndrome Congenital adrenal hyperplasia

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 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 21-hydroxylase Deficiency Adrenal Hyperplasia, Congenital Adrenogenital Syndrome CAH is a genetic steroidogenesis disorder. --- C656G ---

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 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 21-hydroxylase Deficiency Adrenal Hyperplasia, Congenital Adrenogenital Syndrome CAH is a genetic steroidogenesis disorder. --- C656G --- --- C656G ---