Adrenal Disorders II

Question 1

What is congenital adrenal hyperplasia?

Answer 1

A group of rare genetic conditions associated with enzyme defects in the steroid pathway

Question 2

What is the most common type of congenital adrenal hyperplasia?

Answer 2

21-Hydroxylase deficiency

(CYP21A2 mutation)

Question 3

Congenital adrenal hyperplasia is autosomal _________

Answer 3

Congenital adrenal hyperplasia is autosomal recessive

Question 4

What are the variants of 21 hydroxylase deficiency?

Answer 4

Classical

• Salt-wasting
• Simple virilising

Non-classical

• Hyperandrogenaemia

Question 5

How does classical CAH present in males and females respectively?

Answer 5

Males

• Adrenal insufficiency
• Poor weight gain
• Addison’s disease biochemical pattern

Females

• Ambiguous genitalia

Question 6

How does non-classical CAH present?

Answer 6

1. Hirsute
2. Acne
3. Oligomenorrhoea
4. Precocious puberty
5. Infertility or sub-fertility

Question 7

How is CAH treated in children?

Answer 7

1. Glucocorticoid replacement
2. Mineralocorticoid replacement (not all require)
3. Surgical correction

Question 8

How is CAH treated in adults?

Answer 8

1. Control androgen excess
2. Restore fertility

(avoid over-replacing steroids)

Question 9

What are some clinical clues for a phaeochromocytoma?

Answer 9

1. Labile (changeable) hypertension
2. Postural hypotension
3. Paroxysmal sweating, headache, pallor, tachycardia, constipation, anxiety, palpitations, breathlessness

Question 10

Which complications may arise from phaeochromocytoma?

Answer 10

1. LVF
2. Myocardial necrosis
3. Stroke
4. Shock
5. Paralytic ileus of bowel

Question 11

What are the biochemical abnormalities associated with a phaechromocytoma?

Answer 11

1. Hyperglycaemia
2. Low potassium
3. High Hb
4. Hypercalcaemia (mild)
5. Lactic acidosis

Question 12

Who should be investigated for a phaeochromocytoma?

Answer 12

1. People who have familty members with the condition
2. Resistant hypertension (especially young)
3. Classic symptoms
4. Hypertension and hyperglycaemia

Question 13

How can catechloamine excess be identified?

Answer 13

1. Urine - 2 x 24hr catecholamines or metanephrins
2. Plasma - ideally at time of symptoms

Question 14

How can a phaeochromocytoma be diagnosed?

Answer 14

1. MRI scan of whole body
2. PET scan

Question 15

How is phaeochromocytoma treated?

Answer 15

Full alpha and beta blockade (alpha before beta)

• Phenoxybenzamine
• Propranolol, atenolol or metoprolol

Fluid and/or blood replacement

Surgery

Chemotherapy if malignant

Question 16

Phaechromocytoma is associated with which other condition?

Answer 16

1. MEN 2
2. Von-Hippel-Lindau syndrome
3. Succinate dehydrogenase mutations
4. Neurofibromatosis
5. Tuberous sclerosis