EXAM #2: PEDIATRIC ADRENAL DISORDERS

Question 1

What enzyme deficiency causes most cases of Congenital Adrenal Hyperplasia?

Answer 1

21 Hydroxylase

Question 2

What is the effect of 21 hydroxylase deficiency on hormone levels?

Answer 2

Low aldosterone and cortisol

Question 3

What are the classic lab findings in classic Congenital Adrenal Hyperplasia?

Answer 3

1) Hyponatremia
2) Hyperkalemia
3) Hypoglycemia

*With failure to thrive

Question 4

How will males and females appear in classic Congenital Adrenal Hyperplasia?

Answer 4

Females= ambiguious genitalia 
Males= normal

Question 5

How does non-classic congenital adrenal hyperplasia preset?

Answer 5

• Non-salt wasting
• Female= precocious puberty
• Males= early virilization

Question 6

How does 11 B-hydroxylase deficiency present?

Answer 6

1) HTN
2) Virilization in all patients
3) Non salt losing

Question 7

How does 17a-hydroxylase deficiency present?

Answer 7

1) HTN
2) Non-salt losing
3) Hypokalemia

Males= ambiguious genitalia 
Females= lack secondary sexual development

Question 8

How is Congenital Adrenal Hyperplasia diagnosed?

Answer 8

1) 21 hydroxylase defect will result in high 17 hydroxyprogesterone
2) Elevated ATCH
3) Elevated Renin

Question 9

What is the gold standard for diagnosing Congenital Adrenal Hyperplasia?

Answer 9

Consyntropin Stimulation Test

Question 10

What are the lab findings in 11 B-hydroxylase deficiency?

Answer 10

Increased 11-deoxycorticosterone and 11-deoxycortisol

Question 11

What lab findings are seen in 17 hydroxylase deficiency?

Answer 11

1) Hypokalemia

2) Elevated aldosterone

Question 12

How is congenital adrenal hyperplasia treated?

Answer 12

1) Hydrocortisone
2) Fludrocortisone
3) Surgical correction of genitalia

Question 13

When will a child typically present with Addison’s Disease?

Answer 13

Between 10-14 years old

Question 14

What is APS?

Answer 14

Autoimmune Polyglandular Syndrome

*Autoimmune destruction involving multiple endocrine glands with adrenal insufficiency being the common factor

Question 15

What is the difference between APS1 and APS2?

Answer 15

APS1= Adrenal insufficiency +

• Hypoparathyroidism
• Mucocutaneous candidiasis

APS2= Adrenal insufficiency +

• Thyroiditis
• DM-I

Question 16

What is the most common cause of Cushing Syndrome in infants?

Answer 16

Adrenal tumor (ACTH independent)

Question 17

What is the most common cause of Cushing Syndrome in children?

Answer 17

Pituitary adenoma (ACTH dependent)

Question 18

In the pediatric population, what is a major clue to Cushing Syndrome?

Answer 18

Weight gain without gaining height

Question 19

How is Cushing Syndrome diagnosed in children?

Answer 19

1) 24 hr urinary cortisol* or low-dose DST
2) High-dose DST

*Preferred

Question 20

What is the treatment for Cushing’s Syndrome in children?

Answer 20

Treat the underlying cause i.e.

1) Stop exogenous steroids
2) Surgical excision or adrenal tumor
3) Transsphenoidal pituitary resection

Question 21

What genetic disorders are pheochromocytomas associated with children?

Answer 21

MEN2A/ 2B

Von Hippel Lindau

Question 22

What are the classic symptoms of a pheochromocytoma?

Answer 22

• Episodic headache
• Sweating
• Tachycardia

Question 23

How are pheochromocytomas diagnosed?

Answer 23

1) 24 hour urinary catecholamines and metanephrines

2) CT/MRI abdomen and pelvis

Question 24

How are pheochromocytomas treated pre-op?

Answer 24

Alpha blocker (phenoxybenzamine) then Beta blocker

Question 25

What test can be done if there is a high suspicion for pheochromocytoma and CT/MRI of abdomen and pelvis is negative?

Answer 25

MIBG