Congenital adrenal hyperplasia - Revision history

Rossdonaldson1: /* Background */

2024-02-14T16:56:28Z

Background

← Older revision		Revision as of 16:56, 14 February 2024
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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).~~[29]~~ 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.]]		[[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

Rossdonaldson1: /* Background */

2024-02-14T16:54:32Z

Background

← Older revision		Revision as of 16:54, 14 February 2024
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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).[29] 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

Rossdonaldson1: /* Clinical Features */

2024-02-14T16:50:07Z

Clinical Features

← Older revision		Revision as of 16:50, 14 February 2024
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	==Clinical Features==		==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 (peds)\|dehydration]], [[pediatric shock\|shock]]		**[[Lethargy]], irritability, poor feeding, [[vomiting]], [[dehydration (peds)\|dehydration]], [[pediatric shock\|shock]]

Rossdonaldson1: /* Clinical Features */

2024-02-14T16:48:15Z

Clinical Features

← Older revision		Revision as of 16:48, 14 February 2024
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	*Salt-wasting		*Salt-wasting
	**[[Hyponatremia]], [[hyperkalemia]]		**[[Hyponatremia]], [[hyperkalemia]]
	*Virilization, Brown hue skin ~~colour~~		*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		*Partial CAH may present later and less dramatically with irregular menses in adolescence

Rossdonaldson1: /* Management */

2024-02-14T16:45:57Z

Management

← Older revision		Revision as of 16:45, 14 February 2024
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	**Obtain blood sample for steroid hormone measurement		**Obtain blood sample for steroid hormone measurement
	***Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency '''prior''' to administering hydrocortisone		***Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency '''prior''' to administering hydrocortisone
	*[[Hypoglycemia]]		*[[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		**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]]		*[[Hyperkalemia]]

Rossdonaldson1: /* Management */

2024-02-14T16:44:56Z

Management

← Older revision		Revision as of 16:44, 14 February 2024
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	==Management==		==Management==
	#[[NS]] 10-20mL/kg bolus 0.9% saline solution or 5% dextrose in normal saline		*[[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		**Hypotonic saline or 5% dextrose without addition of NS should not be used as can worsen hyponatremia
	#[[Steroid]] replacement		*[[Steroid]] replacement
	#*Neonates: [[Hydrocortisone]] 25mg IV/IO		**Neonates: [[Hydrocortisone]] 25mg IV/IO
	#*Obtain blood sample for steroid hormone measurement		**Obtain blood sample for steroid hormone measurement
	#**Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency '''prior''' to administering hydrocortisone		***Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency '''prior''' to administering hydrocortisone
	#[[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		**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]]		*[[Hyperkalemia]]
	#*Typically improves promptly after hydrocortisone		**Typically improves promptly after hydrocortisone
	#*Rare occasionally for severe and symptomatic hyperkalemia, administration of glucose and insulin is needed to manage hyperkalemia		**Rare occasionally for severe and symptomatic hyperkalemia, administration of glucose and insulin is needed to manage hyperkalemia

	==Disposition==		==Disposition==

Rossdonaldson1 at 16:44, 14 February 2024

2024-02-14T16:44:13Z

← Older revision		Revision as of 16:44, 14 February 2024
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	*Although congenital adrenal hyperplasia is part of the normal neonatal screening, results might not be available for 3 to 4 weeks.		*Although congenital adrenal hyperplasia is part of the normal neonatal screening, results might not be available for 3 to 4 weeks.

	==Clinical ~~features/evaluation~~==		==Clinical Features==
	*Patient presents in 2nd week of life in crisis		*Patient presents in 2nd week of life in crisis
	**[[Lethargy]], irritability, poor feeding, [[vomiting]], [[dehydration (peds)\|dehydration]], [[pediatric shock\|shock]]		**[[Lethargy]], irritability, poor feeding, [[vomiting]], [[dehydration (peds)\|dehydration]], [[pediatric shock\|shock]]
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	*Partial CAH may present later and less dramatically with irregular menses in adolescence		*Partial CAH may present later and less dramatically with irregular menses in adolescence

	==Work-Up==		==Differential Diagnosis==
			*Adrenal salt-wasting crisis

			{{Sick neonate DDX}}
			{{Adrenal crisis ddx}}

			==Evaluation==
			===Work-Up===
	*Bedside glucose		*Bedside glucose
	*Chemistry		*Chemistry
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	**[[Hyperkalemia]] - rarely causes cardiac dysfunction		**[[Hyperkalemia]] - rarely causes cardiac dysfunction

	==~~Differential~~ Diagnosis==		===Diagnosis===
	*Adrenal salt-wasting crisis

	~~{{Sick neonate DDX}}~~
	~~{{Adrenal crisis ddx}}~~

	==Management==		==Management==

Rossdonaldson1: /* Differential Diagnosis */

2024-02-14T16:39:16Z

Differential Diagnosis

← Older revision		Revision as of 16:39, 14 February 2024
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	{{Sick neonate DDX}}		{{Sick neonate DDX}}
			{{Adrenal crisis ddx}}

	==Management==		==Management==

Dcpinzonc: /* Clinical features/evaluation */

2021-02-09T17:58:01Z

Clinical features/evaluation

← Older revision		Revision as of 17:58, 9 February 2021
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	*Salt-wasting		*Salt-wasting
	**[[Hyponatremia]], [[hyperkalemia]]		**[[Hyponatremia]], [[hyperkalemia]]
	*Virilization		*Virilization, Brown hue skin colour
	*Partial CAH may present later and less dramatically with irregular menses in adolescence		*Partial CAH may present later and less dramatically with irregular menses in adolescence

Sabedi: /* Management */

2020-02-26T19:30:43Z

Management

← Older revision		Revision as of 19:30, 26 February 2020
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	#*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		#*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]]		#[[Hyperkalemia]]
	#*~~Do NOT give [[insulin]]/glucose (may lead to profound [[Neonatal hypoglycemia\|hypoglycemia]])~~		#*Typically improves promptly after hydrocortisone
	#*~~[[NS]]~~ and ~~[[hydrocortisone]] are usually sufficient~~		#*Rare occasionally for severe and symptomatic hyperkalemia, administration of glucose and insulin is needed to manage hyperkalemia
	~~#*May add [[calcium gluconate]] if~~ symptomatic

	==Disposition==		==Disposition==