Congenital adrenal hyperplasia: Difference between revisions
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==Background== | ==Background== | ||
[[File:Steroidogenesis.svg|thumb|Steroidogenesis: The enzymes affected in CAH are represented by one red and four green bars on the top half of the diagram (for example, "21α-hydroxylase" is visible near the top center. "17α-hydroxylase" and "17,20 lyase" are carried out by a single enzyme).Depending upon which enzyme is unavailable, production of androgens (lower left) or mineralocorticoids (upper right) is reduced. This, in turn, can lead to increased production of other molecules, due to a buildup of precursors.]] | |||
*95% of cases due to deficiency of 21-hydroxylase | *95% of cases due to deficiency of 21-hydroxylase | ||
**Leads to cortisol deficiency, aldosterone deficiency, virilization | **Leads to cortisol deficiency, aldosterone deficiency, virilization | ||
*Patients present during 2nd-5th week of life in crisis | *Patients present during 2nd-5th week of life in crisis | ||
*Although congenital adrenal hyperplasia is part of the normal neonatal screening, results might not be available for 3 to 4 weeks. | |||
== | ==Clinical Features== | ||
[[File:ClitoromegalyCAH.jpg|thumb|Clitoromegaly (with normal labia and introitus) in a female child with CAH.]] | |||
*Patient presents in 2nd week of life in crisis | *Patient presents in 2nd week of life in crisis | ||
**Lethargy, irritability, poor feeding, vomiting, dehydration, shock | **[[Lethargy]], irritability, poor feeding, [[vomiting]], [[dehydration (peds)|dehydration]], [[pediatric shock|shock]] | ||
*Salt-wasting | *Salt-wasting | ||
**Hyponatremia, hyperkalemia | **[[Hyponatremia]], [[hyperkalemia]] | ||
*Virilization | *Virilization: The development of male-pattern physical traits in females | ||
*Brown hue skin color | |||
*Partial CAH may present later and less dramatically with irregular menses in adolescence | |||
==Differential Diagnosis== | |||
*Adrenal salt-wasting crisis | |||
==Work-Up== | {{Sick neonate DDX}} | ||
{{Adrenal crisis ddx}} | |||
==Evaluation== | |||
===Work-Up=== | |||
*Bedside glucose | *Bedside glucose | ||
*Chemistry | *Chemistry | ||
**Hyponatremia | **[[Hyponatremia]] | ||
**[[Hyperkalemia]] - rarely causes cardiac dysfunction | **[[Hyperkalemia]] - rarely causes cardiac dysfunction | ||
== | ===Diagnosis=== | ||
==Management== | ==Management== | ||
*[[NS]] 10-20mL/kg bolus 0.9% saline solution or 5% dextrose in normal saline | |||
**Hypotonic saline or 5% dextrose without addition of NS should not be used as can worsen hyponatremia | |||
*[[Steroid]] replacement | |||
**Neonates: [[Hydrocortisone]] 25mg IV/IO | |||
**Obtain blood sample for steroid hormone measurement | |||
***Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency '''prior''' to administering hydrocortisone | |||
*[[Neonatal hypoglycemia|Hypoglycemia]] | |||
**If significant hypoglycemia, given IV bolus 5-10mL/kg of 10% dextrose (0.5-1.0 g/kg) or 2-4mL/kg of 25% dextrose (D25) infused slowly at rate of 2-3 mL/min | |||
*[[Hyperkalemia]] | |||
**Typically improves promptly after hydrocortisone | |||
**Rare occasionally for severe and symptomatic hyperkalemia, administration of glucose and insulin is needed to manage hyperkalemia | |||
==Disposition== | ==Disposition== | ||
*Admit | |||
==See Also== | ==See Also== |
Latest revision as of 16:56, 14 February 2024
Background
- 95% of cases due to deficiency of 21-hydroxylase
- Leads to cortisol deficiency, aldosterone deficiency, virilization
- Patients present during 2nd-5th week of life in crisis
- Although congenital adrenal hyperplasia is part of the normal neonatal screening, results might not be available for 3 to 4 weeks.
Clinical Features
- Patient presents in 2nd week of life in crisis
- Lethargy, irritability, poor feeding, vomiting, dehydration, shock
- Salt-wasting
- Virilization: The development of male-pattern physical traits in females
- Brown hue skin color
- Partial CAH may present later and less dramatically with irregular menses in adolescence
Differential Diagnosis
- Adrenal salt-wasting crisis
Sick Neonate
THE MISFITS [1]
- Trauma
- Heart
- Congenital heart disease
- Hypovolemia
- Endocrine
- Metabolic
- Sodium
- Calcium
- Glucose
- Inborn errors of metabolism
- Seizure
- Formula / feeding problems
- Intestinal Disasters
- Toxin
- Sepsis
Adrenal crisis
Evaluation
Work-Up
- Bedside glucose
- Chemistry
- Hyponatremia
- Hyperkalemia - rarely causes cardiac dysfunction
Diagnosis
Management
- NS 10-20mL/kg bolus 0.9% saline solution or 5% dextrose in normal saline
- Hypotonic saline or 5% dextrose without addition of NS should not be used as can worsen hyponatremia
- Steroid replacement
- Neonates: Hydrocortisone 25mg IV/IO
- Obtain blood sample for steroid hormone measurement
- Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency prior to administering hydrocortisone
- Hypoglycemia
- If significant hypoglycemia, given IV bolus 5-10mL/kg of 10% dextrose (0.5-1.0 g/kg) or 2-4mL/kg of 25% dextrose (D25) infused slowly at rate of 2-3 mL/min
- Hyperkalemia
- Typically improves promptly after hydrocortisone
- Rare occasionally for severe and symptomatic hyperkalemia, administration of glucose and insulin is needed to manage hyperkalemia
Disposition
- Admit
See Also
References
- ↑ Brousseau T, Sharieff GQ. Newborn emergencies: the first 30 days of life. Pediatr Clin North Am. 2006 Feb;53(1):69-84, vi.