Congenital Adrenal Hyperplasia (CAH): Difference between revisions
From Guide to YKHC Medical Practices
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**Fluids (NS 20mL/kg bolus then D5NS or D10NS at 1.5xmaintenance) | **Fluids (NS 20mL/kg bolus then D5NS or D10NS at 1.5xmaintenance) | ||
**monitor glucose and electrolytes | **monitor glucose and electrolytes | ||
**stress-dose hydrocortisone (double or triple oral dose if able to tolerate or IV/IM) with fever, vomiting, or severe illness | **stress-dose hydrocortisone (double or triple oral dose if able to tolerate or IV/IM (see [https://www.chop.edu/video/solu-cortef-emergency-injection video] for how-to-use solu-cortef]) with fever, vomiting, or severe illness | ||
***<3y/o: 25mg bolus followed by 30mg/day | ***<3y/o: 25mg bolus followed by 30mg/day | ||
***3-12y/o: 50mg bolus followed by 60mg/day | ***3-12y/o: 50mg bolus followed by 60mg/day | ||
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*when ill or severely stressed (infectious diseases, surgical procedures, etc) | *when ill or severely stressed (infectious diseases, surgical procedures, etc) | ||
===Resources/References=== | ===Resources/References=== | ||
* [https://www.chop.edu/video/solu-cortef-emergency-injection Solu-cortef Emergency Injection] (Youtube video) | |||
* [[media:Congenital Adrenal Hyperplasia.pdf|Congenital Adrenal Hyperplasia]] Powerpoint presentation by Rachel Lescher, MD | * [[media:Congenital Adrenal Hyperplasia.pdf|Congenital Adrenal Hyperplasia]] Powerpoint presentation by Rachel Lescher, MD | ||
* [[Adrenal Crisis-Congenital Adrenal Hyperplasia (CAH)]] Emergency RMT Scenario Wiki resource | * [[Adrenal Crisis-Congenital Adrenal Hyperplasia (CAH)]] Emergency RMT Scenario Wiki resource | ||
[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]] | [[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]] |
Revision as of 17:51, 14 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 (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
- Solu-cortef Emergency Injection (Youtube video)
- Congenital Adrenal Hyperplasia Powerpoint presentation by Rachel Lescher, MD
- Adrenal Crisis-Congenital Adrenal Hyperplasia (CAH) Emergency RMT Scenario Wiki resource