II. Definition
- Inherited Adrenal Insufficiency onset at birth
III. Pathophysiology
- Autosomal Recessive inheritance
- Group of defective enzymes in Cortisol Synthesis
- Six different enzyme deficiencies possible
- See Steroid Hormone Pathway
- 21-Hydroxylase deficiency is most common (90%)
IV. Types
- Complete Enzyme Deficiency (Classic, Salt-losing)
- Onset as newborn with adrenal crisis by 2 weeks old (as maternal Cortisol wanes)
- Most common cause of Ambiguous Genitalia in females
- Female genitalia are more significantly affected than male genitalia
- Females are therefore typically diagnosed in newborn nursery (as opposed to boys who present later)
- Partial Enzyme Deficiency (Simple virilizing)
- Adrenal Insufficiency occurs only as stress reaction
- Causes Androgen Excess in later childhood
V. Symptoms: Presenting
- Vomiting
- Lethargy
- Decreased oral intake
VI. Signs
VII. Diagnosis
- Classic (complete deficiency) type in newborns
- 17-Hydroxyprogesterone increased
- Non-classic (Partial deficiency) type in children
- 17-Hydroxyprogesterone increased 1 hour post-ACTH
VIII. Labs
- Serum Electrolytes
- Adrenal labs
- Low Cortisol
- Low Aldosterone
- High renin
- Sex Hormone abnormalities depend on enzyme deficiency
- Virilizing if 21-Hydroxylase or 11-Hydroxylase
- Testosterone increased in girls
- Androstenedione increased in girls and boys
IX. Diagnostics
-
Electrocardiogram (EKG)
- Indicated for Hyperkalemia
X. Management: Initial priorities
- Rehydration with Normal Saline in small boluses (10 cc/kg)
- Correct Hypoglycemia
- Hydrocortisone IV