Overview
Diagnosis
Healthcare professionals may diagnose congenital adrenal hyperplasia (CAH) before birth, shortly after birth, or later in life during childhood or adulthood.
Prenatal testing
Tests that can detect CAH in fetuses at risk include:
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Amniocentesis, which removes a small amount of amniotic fluid for lab testing.
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Chorionic villus sampling, which collects placenta cells for genetic analysis.
These tests confirm whether the fetus has CAH.
Newborns and infants
In many countries, newborns are routinely screened for 21-hydroxylase deficiency, usually within the first few days of life. This test detects the classic form of CAH but not the nonclassic type.
If a female infant has atypical genital appearance, further tests may include:
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Chromosome analysis to confirm genetic sex.
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Pelvic ultrasound to check for internal reproductive organs such as the uterus and ovaries.
Children and adults
For older children and adults, diagnosis involves several steps:
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Physical exam to review symptoms and check blood pressure and heart rate.
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Blood and urine tests to measure adrenal hormones and electrolyte levels.
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X-ray to assess bone development compared to typical age ranges.
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Genetic testing to confirm the specific type of CAH.
Treatment
Treatment focuses on hormone balance, symptom control, and lifelong management. A pediatric endocrinologist usually treats children, while adults see an endocrinologist. Other specialists may include:
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Urologists
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Psychologists
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Reproductive endocrinologists
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Geneticists
Medications
The main goal is to reduce excess androgen production and replace missing hormones.
People with classic CAH need lifelong hormone replacement, while those with nonclassic CAH may need only small doses or no treatment at all.
Common medications include:
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Corticosteroids to replace cortisol.
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Mineralocorticoids to replace aldosterone and help balance salt and potassium.
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Salt supplements to maintain sodium levels.
During illness or stress, higher doses may be required.
Regular checkups help monitor growth, hormone balance, and medication side effects such as slowed growth, bone loss, or signs of Cushing syndrome.
People with classic CAH are advised to wear a medical identification bracelet or necklace for emergencies.
Reconstructive surgery
Some female infants with classic CAH have atypical genital development. Reconstructive surgery may improve function and appearance.
Procedures often involve reducing clitoral size and rebuilding the vaginal opening, typically between 3 and 6 months of age.
Some parents may delay surgery until the child is old enough to decide. The timing should be discussed thoroughly with the healthcare team.
Mental health support
Emotional and psychological care are essential for managing CAH. A mental health professional experienced in this condition can support both children and adults in coping with the social and emotional challenges.
Research
Experimental treatments using corticosteroids during pregnancy aim to reduce CAH effects before birth. However, these treatments remain controversial, and more research is needed to confirm long-term safety and effectiveness.
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