A neonate with congenital adrenal hyperplasia (CAH) may appear normal for several days after birth. They then may present with signs and symptoms that may mimic neonatal sepsis.
Symptoms at presentation may include:
(1) poor feeding or refusal to eat
(2) lethargy
(3) vomiting
(4) hypotension and hemodynamic instability
(5) dehydration
Detection of congenital adrenal hyperplasia may depend on recognizing:
(1) ambiguous genitalia in female
(2) virilization in male
(3) hyperkalemia
(4) hyponatremia
(5) hypoglycemia
The diagnosis can be made by:
(1) detection of elevated serum 17-hydroxyprogesterone
(2) elevation of serum 17-hydroxyprogesterone after ACTH stimulation
(3) mutation analysis of the CY21 gene
Failure to diagnose and treat properly can result in:
(1) cardiac arrhythmias
(2) status epilepticus
(3) death
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