| Condition:1 | Congenital Adrenal Hyperplasia (non-classical) |
|---|---|
| Category:2 | Core |
| SNOMED CT Code:3 | 237754008—Late onset congenital adrenal hyperplasia UMLS CUI:4C0342467 |
| ICD-9-CM Code:5 | 255.2—Adrenogenital disorders |
| ICD-10-CM Code:6 | E25.0—Congenital adrenogenital disorders associated with enzyme deficiency |
Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including: Cortisol, which regulates the body's response to illness or stress.
Congenital adrenal hyperplasia is a genetic disorder. In children with CAH, the gene (21-hydroxylase) that makes the enzyme needed to produce cortisol and aldosterone is not working properly. In order for a child to be born with CAH, both parents must be carriers of the mutated gene and pass it on to their baby.
The defect is in the production of cortisol, and often aldosterone, in the adrenal cortex (1). In infancy, the most common cause of congenital adrenal insufficiency is congenital adrenal hyperplasia, in which 21-hydroxylase deficiency is found in approximately 75%-90% of all cases.
Congenital adrenal hyperplasia (CAH) ranks among the most common inherited metabolic disorders, with the classic form (i.e., 21-hydroxylase deficiency) affecting about one in 15,000 newborns.
Congenital adrenal hyperplasia is an inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands. The most common enzyme defect, 21-hydroxylase deficiency, leads to excess amounts of male hormones being produced by the adrenal glands.
Diagnosis of CAH in children and young adults includes: Physical exam. Your health care provider will do a physical exam, check your child's blood pressure and heart rate, and review symptoms to identify possible CAH . The next step is to confirm the diagnosis with blood and urine tests.
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21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia.
Symptoms of nonclassic CAH can include: Rapid growth in childhood and early teens but shorter height than both parents. Early signs of puberty. Acne.
If the defect is severe and results in salt wasting, these male neonates present at age 1-4 weeks with failure to thrive, recurrent vomiting, dehydration, hypotension, hyponatremia, hyperkalemia, and shock (classic salt-wasting adrenal hyperplasia).
Non-classical congenital adrenal hyperplasia (NCCAH) is considered to be a common monogenic inherited disease, with an incidence range from 1:500 to 1:100 births worldwide.