Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders affecting the adrenal glands, which are involved in the production of essential hormones including cortisol, aldosterone and adrenal androgens.
CAH is caused by mutations in genes that code for enzymes involved in steroid hormone production. The most common form (about 95% of cases) involves a deficiency in the enzyme 21-hydroxylase (21-OH) caused by mutations in the CYP21A2 gene. Severe deficiency of this enzyme leads to an inability of the adrenal glands to produce enough cortisol and, in approximately 75% of cases, aldosterone. When the body cannot produce cortisol efficiently, the pituitary gland releases more adrenocorticotropic hormone (ACTH) to stimulate the adrenal glands, which leads to adrenal cortex hyperplasia and the overproduction of other hormones, particularly androgens. Less common forms of CAH involve deficiencies in other enzymes such as 11β-hydroxylase or 17α-hydroxylase.
Symptoms of CAH vary depending on the severity. The condition manifests in infants, children, or adults with symptoms of corticosteroid deficiency, often accompanied by either a deficiency or an excess of mineralocorticoids and sex steroids, depending on the specific enzyme defect. Clinical presentations vary by enzyme defect, ranging from ambiguous genitalia in genotypic females to potentially life-threatening adrenal insufficiency in males.
The cornerstone of treatment involves replacing the deficient cortisol with synthetic glucocorticoids (such as hydrocortisone, prednisolone, or dexamethasone). This provides the essential cortisol the body needs, suppresses excess ACTH production from the pituitary gland, and reduces the overproduction of androgens. Dosing must be carefully calibrated - too little fails to control symptoms, while too much can cause complications of steroid excess, including metabolic issues such as weight gain and diabetes, cardiovascular disease and osteoporosis.
Crenessity (crinecerfont) is a newer treatment for CAH. It is a potent and selective oral corticotropin-releasing factor type 1 receptor (CRF1) antagonist designed to reduce and control excess ACTH and adrenal androgens through antagonism of CRF1 receptors in the pituitary gland.
Drugs used to treat Congenital Adrenal Hyperplasia
The medications listed below are related to or used in the treatment of this condition.
For ratings, users were asked how effective they found the medicine while considering positive/adverse effects and ease of use (1 = not effective, 10 = most effective).
Activity
Activity is based on recent site visitor activity relative to other medications in the list.
Rx
Prescription only.
OTC
Over-the-counter.
Rx/OTC
Prescription or Over-the-counter.
Off-label
This medication may not be approved by the FDA for the treatment of this condition.
EUA
An Emergency Use Authorization (EUA) allows the FDA to authorize unapproved medical products or unapproved uses of approved medical products to be used in a declared public health emergency when there are no adequate, approved, and available alternatives.
Expanded Access
Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
Pregnancy Category
A
Adequate and well-controlled studies have failed to demonstrate a risk to the fetus in the first trimester of pregnancy (and there is no evidence of risk in later trimesters).
B
Animal reproduction studies have failed to demonstrate a risk to the fetus and there are no adequate and well-controlled studies in pregnant women.
C
Animal reproduction studies have shown an adverse effect on the fetus and there are no adequate and well-controlled studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
D
There is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience or studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
X
Studies in animals or humans have demonstrated fetal abnormalities and/or there is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience, and the risks involved in use in pregnant women clearly outweigh potential benefits.
N
FDA has not classified the drug.
Controlled Substances Act (CSA) Schedule
M
The drug has multiple schedules. The schedule may depend on the exact dosage form or strength of the medication.
U
CSA Schedule is unknown.
N
Is not subject to the Controlled Substances Act.
1
Has a high potential for abuse. Has no currently accepted medical use in treatment in the United States. There is a lack of accepted safety for use under medical supervision.
2
Has a high potential for abuse. Has a currently accepted medical use in treatment in the United States or a currently accepted medical use with severe restrictions. Abuse may lead to severe psychological or physical dependence.
3
Has a potential for abuse less than those in schedules 1 and 2. Has a currently accepted medical use in treatment in the United States. Abuse may lead to moderate or low physical dependence or high psychological dependence.
4
Has a low potential for abuse relative to those in schedule 3. It has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 3.
5
Has a low potential for abuse relative to those in schedule 4. Has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 4.
Alcohol
X
Interacts with Alcohol.
Further information
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