What is Congenital Adrenal Hyperplasia (CAH)?
Congenital Adrenal Hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands, small organs located on top of the kidneys. These glands produce essential hormones such as cortisol, aldosterone, and androgens. CAH is typically caused by a deficiency in one of the enzymes needed to produce these hormones, most commonly 21-hydroxylase.
How is CAH Diagnosed in Neonates?
CAH is often detected through newborn screening tests, which measure levels of 17-hydroxyprogesterone (17-OHP) in a blood sample. Elevated levels of 17-OHP may indicate CAH. Early diagnosis is crucial as it allows for prompt treatment, reducing the risk of severe complications. Confirmatory tests include additional hormone assays and genetic testing to identify the specific enzyme deficiency.
Ambiguous genitalia in females
Salt-wasting crises due to aldosterone deficiency
Vomiting, dehydration, and failure to thrive
Hypotension and electrolyte imbalances
Non-classic or late-onset forms may present with milder symptoms that appear later in life.
What Causes CAH?
CAH is caused by mutations in genes responsible for the production of adrenal enzymes. The most common form, 21-hydroxylase deficiency, is due to mutations in the CYP21A2 gene. These mutations are inherited in an autosomal recessive pattern, meaning that both parents must carry and pass on the faulty gene for their child to be affected.
Glucocorticoids to replace cortisol
Mineralocorticoids to replace aldosterone
Salt supplementation, especially in salt-wasting forms
Regular monitoring and dosage adjustments are required to ensure optimal growth and development. In some cases, surgery may be necessary to correct genital abnormalities in females.
What are the Long-term Outcomes for Children with CAH?
With proper management, most children with CAH can lead healthy lives. Regular follow-up with an endocrinologist is essential to monitor growth, development, and hormone levels. Early and consistent treatment helps prevent complications such as adrenal crises and supports normal growth and puberty.
How Can CAH be Prevented or Managed During Pregnancy?
Prenatal diagnosis of CAH is possible through genetic testing of at-risk pregnancies. If CAH is detected, prenatal treatment with dexamethasone may be administered to the mother to reduce the risk of virilization in female fetuses. However, this treatment is still controversial and must be carefully considered by healthcare providers.
Conclusion
Congenital Adrenal Hyperplasia is a manageable condition with appropriate screening, diagnosis, and treatment. Early intervention and consistent medical care are crucial for improving the quality of life and long-term outcomes for affected neonates. Parents of children with CAH should work closely with healthcare providers to ensure comprehensive care.
