Congenital adrenal hyperplasia : Etiology ,Pathophysiology ,Clinical features ,Diagnosis ,Treatment
Congenital adrenal hyperplasia
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A group of autosomal recessive defects in enzymes that are responsible for cortisol, aldosterone, and androgen synthesis. Characterized by low levels of cortisol, high levels of ACTH, and adrenal hyperplasia. The most common form (caused by a deficiency of 21β-hydroxylase) presents with hypotension, hyponatremia, hyperkalemia, metabolic acidosis, ambiguous genitalia and virilization (in females), and/or precocious puberty (i
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