Flashcards in EXAM #2: PEDIATRIC ADRENAL DISORDERS Deck (25):
What enzyme deficiency causes most cases of Congenital Adrenal Hyperplasia?
What is the effect of 21 hydroxylase deficiency on hormone levels?
Low aldosterone and cortisol
What are the classic lab findings in classic Congenital Adrenal Hyperplasia?
*With failure to thrive
How will males and females appear in classic Congenital Adrenal Hyperplasia?
Females= ambiguious genitalia
How does non-classic congenital adrenal hyperplasia preset?
- Non-salt wasting
- Female= precocious puberty
- Males= early virilization
How does 11 B-hydroxylase deficiency present?
2) Virilization in all patients
3) Non salt losing
How does 17a-hydroxylase deficiency present?
2) Non-salt losing
Males= ambiguious genitalia
Females= lack secondary sexual development
How is Congenital Adrenal Hyperplasia diagnosed?
1) 21 hydroxylase defect will result in high 17 hydroxyprogesterone
2) Elevated ATCH
3) Elevated Renin
What is the gold standard for diagnosing Congenital Adrenal Hyperplasia?
Consyntropin Stimulation Test
What are the lab findings in 11 B-hydroxylase deficiency?
Increased 11-deoxycorticosterone and 11-deoxycortisol
What lab findings are seen in 17 hydroxylase deficiency?
2) Elevated aldosterone
How is congenital adrenal hyperplasia treated?
3) Surgical correction of genitalia
When will a child typically present with Addison's Disease?
Between 10-14 years old
What is APS?
Autoimmune Polyglandular Syndrome
*Autoimmune destruction involving multiple endocrine glands with adrenal insufficiency being the common factor
What is the difference between APS1 and APS2?
APS1= Adrenal insufficiency +
- Mucocutaneous candidiasis
APS2= Adrenal insufficiency +
What is the most common cause of Cushing Syndrome in infants?
Adrenal tumor (ACTH independent)
What is the most common cause of Cushing Syndrome in children?
Pituitary adenoma (ACTH dependent)
In the pediatric population, what is a major clue to Cushing Syndrome?
Weight gain without gaining height
How is Cushing Syndrome diagnosed in children?
1) 24 hr urinary cortisol* or low-dose DST
2) High-dose DST
What is the treatment for Cushing's Syndrome in children?
Treat the underlying cause i.e.
1) Stop exogenous steroids
2) Surgical excision or adrenal tumor
3) Transsphenoidal pituitary resection
What genetic disorders are pheochromocytomas associated with children?
Von Hippel Lindau
What are the classic symptoms of a pheochromocytoma?
- Episodic headache
How are pheochromocytomas diagnosed?
1) 24 hour urinary catecholamines and metanephrines
2) CT/MRI abdomen and pelvis
How are pheochromocytomas treated pre-op?
Alpha blocker (phenoxybenzamine) then Beta blocker