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Flashcards in Adrenal Disorders II Deck (16)
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1

What is congenital adrenal hyperplasia?

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

2

What is the most common type of congenital adrenal hyperplasia?

21-Hydroxylase deficiency

 (CYP21A2 mutation)

3

Congenital adrenal hyperplasia is autosomal _________

Congenital adrenal hyperplasia is autosomal recessive

4

What are the variants of 21 hydroxylase deficiency?

Classical

  • Salt-wasting
  • Simple virilising

Non-classical

  • Hyperandrogenaemia

5

How does classical CAH present in males and females respectively?

Males

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

Females

  • Ambiguous genitalia

6

How does non-classical CAH present?

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

7

How is CAH treated in children?

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

8

How is CAH treated in adults?

  1. Control androgen excess
  2. Restore fertility

(avoid over-replacing steroids)

9

What are some clinical clues for a phaeochromocytoma?

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

10

Which complications may arise from phaeochromocytoma?

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

11

What are the biochemical abnormalities associated with a phaechromocytoma?

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

12

Who should be investigated for a phaeochromocytoma?

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

13

How can catechloamine excess be identified?

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

14

How can a phaeochromocytoma be diagnosed?

  1. MRI scan of whole body
  2. PET scan

15

How is phaeochromocytoma treated?

Full alpha and beta blockade (alpha before beta)

  • Phenoxybenzamine
  • Propranolol, atenolol or metoprolol

Fluid and/or blood replacement

Surgery

Chemotherapy if malignant

16

Phaechromocytoma is associated with which other condition?

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