Congenital Adrenal Hyperplasia (CAH)

From Guide to YKHC Medical Practices

Revision as of 18:02, 14 December 2020 by JenniferH (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

(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