21-Hydroxylase Deficiency
O Classic
1) SW form:
• Most Lethal form of 21 hydroxylase deficiency
• Manifests as Salt water crisis at 2 to 6 weeks of life.
• Features:
• Vomiting
• Pigmentation
• Abnormal genital appearance
• Lethargy
• FTT
Shock with Jed Urine output.
• Biochemical Findings:
.
Hyponatremia
• Hyperkalemia
• Hypoglycemia
• Metabolic acidosis
• Hemoconcentration.
A: Female infants present at birth with ambiguous genitalia as a result of in- utero exposure to androgens.
B: Boy with salt-losing CAH present at 7-10 days of age with a salt-losing adrenal crisis with hyperpigmentation on physicalexamination (note scrotal hyperpigmentation).
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