Congenital Adrenal Hyperplasia (CAH)

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(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)
Pathophysiology: Inherited disorders of adrenal steroidogenesis resulting from deficiency in 1 of 5 enzymes necessary for normal cortisol synthesis. 21-hydroxylase deficiency accounts for 90% of CAH.
Inheritance: Autosomal recessive
Demographics: Yupik population = 1:280 live births (highest incidence in the world). General = 1:15,000 live births
Signs/Symptoms: (Initial Presentation)

  • Newborn - Ambiguous genitalia (females, classic)
  • 1-2 weeks old - Adrenal crisis (males, classic salt-losing/wasting):Failure to thrive, dehydration, hyponatremia, hyperkalemia
  • 2-4 years old - Early virilization with pubic hair, growth spurt, adult body odor (males, classic non-salt-losing/wasting)
  • School age - Hirsutism, menstrual irregularity, early pubarche, sexual precocity (non-classic, school age children)

Diagnosis:

  • Newborn Screen - looks for high levels of 17-OH-progesterone seen in classic CAH
  • If NBS (+) or family history of CAH, check levels of 17-OH-progesterone (by mass spectroscopy) and electrolytes
  • If any concerns for CAH, consult YKHC Pediatricians who will help coordinate assessment and management with Pediatric Endocrinology at ANMC

Management:

  • Refer to Pediatric Endocrinology (followed closely with YKHC Pediatricians)
  • If genital ambiguity and non-palpable gonads, run diagnostic tests and then treat empirically in discussion with Pediatric Endocrinology. Draw blood for diagnostic tests before starting treatment
  • Treatment: Hydrocortisone, Fludrocortisone, Sodium Chloride
  • when doing “CAH check-ups”, be sure to check their meds rec forms to confirm that prescriptions are up-to-date, and that the parents are familiar with stress dosing plans (see "Sick Day Plan" in chart).
  • Routine labs per Endocrinologist including 17-OHP, androstenedione and renin activity levels; we also do bone age films frequently on pre-pubertal children.
  • Adrenal Crisis management
    • call YKHC Pediatrics on call if any concerns who will co-manage with Pediatric Endocrinology
    • Fluids (NS 20mL/kg bolus then D5NS or D10NS at 1.5xmaintenance)
    • monitor glucose and electrolytes
    • stress-dose hydrocortisone (double or triple oral dose if able to tolerate or IV/IM (see video for how-to-use solu-cortef) with fever, vomiting, or severe illness
      • <3y/o: 25mg bolus followed by 30mg/day
      • 3-12y/o: 50mg bolus followed by 60mg/day
      • >12y/o: 100mg bolus followed by 100mg/day
      • (also listed in Raven note from Pediatric Endocrinology titled "Sick Day Plan")

Critical Times for Affected Patients:
Any time that could trigger adrenal crisis (hypotension, hyponetremia, hyperkalemia, metabolic acidosis, hypoglycemia)

  • first 1-4 weeks of life (prior to diagnosis or starting treatment)
  • when ill or severely stressed (infectious diseases, surgical procedures, etc)

Resources/References

Common/Unique Medical Diagnoses