EXAM #2: PEDIATRIC ADRENAL DISORDERS Flashcards Preview

Endocrine > EXAM #2: PEDIATRIC ADRENAL DISORDERS > Flashcards

Flashcards in EXAM #2: PEDIATRIC ADRENAL DISORDERS Deck (25):
1

What enzyme deficiency causes most cases of Congenital Adrenal Hyperplasia?

21 Hydroxylase

2

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

Low aldosterone and cortisol

3

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

1) Hyponatremia
2) Hyperkalemia
3) Hypoglycemia

*With failure to thrive

4

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

Females= ambiguious genitalia
Males= normal

5

How does non-classic congenital adrenal hyperplasia preset?

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

6

How does 11 B-hydroxylase deficiency present?

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

7

How does 17a-hydroxylase deficiency present?

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

Males= ambiguious genitalia
Females= lack secondary sexual development

8

How is Congenital Adrenal Hyperplasia diagnosed?

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

9

What is the gold standard for diagnosing Congenital Adrenal Hyperplasia?

Consyntropin Stimulation Test

10

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

Increased 11-deoxycorticosterone and 11-deoxycortisol

11

What lab findings are seen in 17 hydroxylase deficiency?

1) Hypokalemia
2) Elevated aldosterone

12

How is congenital adrenal hyperplasia treated?

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

13

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

Between 10-14 years old

14

What is APS?

Autoimmune Polyglandular Syndrome

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

15

What is the difference between APS1 and APS2?

APS1= Adrenal insufficiency +
- Hypoparathyroidism
- Mucocutaneous candidiasis

APS2= Adrenal insufficiency +
- Thyroiditis
- DM-I

16

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

Adrenal tumor (ACTH independent)

17

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

Pituitary adenoma (ACTH dependent)

18

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

Weight gain without gaining height

19

How is Cushing Syndrome diagnosed in children?

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

*Preferred

20

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

21

What genetic disorders are pheochromocytomas associated with children?

MEN2A/ 2B
Von Hippel Lindau

22

What are the classic symptoms of a pheochromocytoma?

- Episodic headache
- Sweating
- Tachycardia

23

How are pheochromocytomas diagnosed?

1) 24 hour urinary catecholamines and metanephrines
2) CT/MRI abdomen and pelvis

24

How are pheochromocytomas treated pre-op?

Alpha blocker (phenoxybenzamine) then Beta blocker

25

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

MIBG