Description Congenital adrenal ...
Description
Congenital adrenal hyperplasia (CAH) is a group of rare inherited disorders that result in an enzyme deficiency involved in the making of cortisol, aldosterone, or both hormones. In about 90% of cases the deficient enzyme is 21-hydroxylase.The most common form of CAH will present with abnormal genitalia at birth in females or early puberty in a toddler boy. If controlled with proper medication, people usually will have good outcomes and overall health. CHA occurs in children at the rate of 1 in 10,000 - 18,000 births.
Symptoms
Symptoms vary depending on the age, gender of children and the severity of the condition. Girls with a more severe condition at birth will present with abnormal genitals, while the boys will appear normal at birth. Boys will present more with symptoms as they enter puberty earlier than average. Other symptoms that may present 2-3 weeks after birth for both genders include low blood pressure, confusion, dehydration, vomiting and failure to thrive. On average both genders will be shorter than normal as adults.
Tests
Common tests used for diagnosis and treatment
Workup:
A complete history and physical exam will be performed. Neonatal screening within 2 to 4 days by heel puncture for enzyme deficiency (21-hydroxylase) is done routinely in the United States with a possible follow up study done a week later. If it is a nonclassic form of CAH, a Cortrosyn stimulation test will be performed.
Tests:
Comprehensive metabolic panel (CMP), 17-hydroxyprogesterone, Genetic testing, Aldosterone, Cortisol (serum)
Other Specific Tests: Cortosyn stimulation test
Specialists:
Pediatrics, Endocrinology, Pediatric Surgery, Pediatric Endocrinology, Clinical Genetics
Workup:
A complete history and physical exam will be performed. Neonatal screening within 2 to 4 days by heel puncture for enzyme deficiency (21-hydroxylase) is done routinely in the United States with a possible follow up study done a week later. If it is a nonclassic form of CAH, a Cortrosyn stimulation test will be performed.
Tests:
Comprehensive metabolic panel (CMP), 17-hydroxyprogesterone, Genetic testing, Aldosterone, Cortisol (serum)
Other Specific Tests: Cortosyn stimulation test
Specialists:
Pediatrics, Endocrinology, Pediatric Surgery, Pediatric Endocrinology, Clinical Genetics
Treatment
Treatment is usually long-term replacement with a glucocorticoid or aldosterone-like drug or both. People with the disorder must take the medication their entire life. When first diagnosed, the patient may require intravenous fluids to correct electrolyte imbalances.