Congenital Adrenal Hyperplasia (CAH): Difference between revisions
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<br/>'''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. | <br/>'''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. | ||
<br/>'''Inheritance:''' Autosomal recessive | <br/>'''Inheritance:''' Autosomal recessive | ||
<br/>'''Demographics:''' Yupik population = 1:280 live births. General = 1:15,000 live births | <br/>'''Demographics:''' Yupik population = 1:280 live births (highest incidence in the world). General = 1:15,000 live births | ||
<br/>'''Signs/Symptoms: (Initial Presentation)''' | <br/>'''Signs/Symptoms: (Initial Presentation)''' | ||
*Newborn - Ambiguous genitalia (females, classic) | *Newborn - Ambiguous genitalia (females, classic) |
Revision as of 04:38, 5 December 2020
(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
- 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
- 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 (IV or IM)
- <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
- Congenital Adrenal Hyperplasia Powerpoint presentation by Rachel Lescher, MD
- Adrenal Crisis-Congenital Adrenal Hyperplasia (CAH) Emergency RMT Scenario Wiki resource