Infants/Children Adrenal Disorders

Question 1

What are the features of 21 Hydroxylase Deficiency?

Answer 1

Excess androgens
Low aldosterone
Hyponatremic low Na
Hyperkalemic high K
High 17Hydroxy-progesterone

Question 2

What are the clinical Presentations in 21OH Deficiency in infancy?

Answer 2

Females: Ambiguous Genitalia
Males: Can be normal at birth or enlarged Genitalia

Question 3

What builds up in 11B hydroxylase Deficiency

Answer 3

11 Deoxy-corticosterone

Question 4

What builds up in 17OH deficiency?

Answer 4

Aldosterone

Question 5

What is the most common cause of Addisnon’s disease?

Answer 5

Aoutoimmune
TB
Bilateral Adrenal hemorrage (Waterhouse Friedrickson syndrome cause by Neisseria Meningitidis)
Mets Disease

Question 6

What is APS (AI Polyglandular Syndrome)?

Answer 6

APS1: HypoPT, Candida, Adrenal Insuff
APS 2: Adrenal Insuff
Thyroiditis and T1 DM

Question 7

What is the most common cause of Cushings in Infants?

Children?

Answer 7

Adrenal Tumor

Pit Adenoma

Question 8

What are the signs of cushings in kids?

Answer 8

Gain weight and Growth Retardation

Question 9

WHat cells secrete catecholemines in Pheo?

Answer 9

Chromaffin cells

Question 10

What other Genes and syyndromes are associated with Pheo?

Answer 10

MEN 2A and 2B
Von-Hippel Lindau Synd
(Tuberous Sclerosis)

Question 11

What is the triad of Pheo?

Answer 11

Episodic Headache
Sweatng and
Tachycardia
Inc BP and ass symptoms

Question 12

What is the Medical Tx of Pheo?

Answer 12

Alph and Beta Blockade

Alpha First!