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The Endocrine System > Adrenal Disorders II > Flashcards

Adrenal Disorders II Flashcards

1
Q

What is congenital adrenal hyperplasia?

A

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

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2
Q

What is the most common type of congenital adrenal hyperplasia?

A

21-Hydroxylase deficiency

(CYP21A2 mutation)

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3
Q

Congenital adrenal hyperplasia is autosomal _________

A

Congenital adrenal hyperplasia is autosomal recessive

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4
Q

What are the variants of 21 hydroxylase deficiency?

A

Classical

  • Salt-wasting
  • Simple virilising

Non-classical

  • Hyperandrogenaemia
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5
Q

How does classical CAH present in males and females respectively?

A

Males

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

Females

  • Ambiguous genitalia
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6
Q

How does non-classical CAH present?

A
  1. Hirsute
  2. Acne
  3. Oligomenorrhoea
  4. Precocious puberty
  5. Infertility or sub-fertility
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7
Q

How is CAH treated in children?

A
  1. Glucocorticoid replacement
  2. Mineralocorticoid replacement (not all require)
  3. Surgical correction
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8
Q

How is CAH treated in adults?

A
  1. Control androgen excess
  2. Restore fertility

(avoid over-replacing steroids)

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9
Q

What are some clinical clues for a phaeochromocytoma?

A
  1. Labile (changeable) hypertension
  2. Postural hypotension
  3. Paroxysmal sweating, headache, pallor, tachycardia, constipation, anxiety, palpitations, breathlessness
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10
Q

Which complications may arise from phaeochromocytoma?

A
  1. LVF
  2. Myocardial necrosis
  3. Stroke
  4. Shock
  5. Paralytic ileus of bowel
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11
Q

What are the biochemical abnormalities associated with a phaechromocytoma?

A
  1. Hyperglycaemia
  2. Low potassium
  3. High Hb
  4. Hypercalcaemia (mild)
  5. Lactic acidosis
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12
Q

Who should be investigated for a phaeochromocytoma?

A
  1. People who have familty members with the condition
  2. Resistant hypertension (especially young)
  3. Classic symptoms
  4. Hypertension and hyperglycaemia
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13
Q

How can catechloamine excess be identified?

A
  1. Urine - 2 x 24hr catecholamines or metanephrins
  2. Plasma - ideally at time of symptoms
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14
Q

How can a phaeochromocytoma be diagnosed?

A
  1. MRI scan of whole body
  2. PET scan
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15
Q

How is phaeochromocytoma treated?

A

Full alpha and beta blockade (alpha before beta)

  • Phenoxybenzamine
  • Propranolol, atenolol or metoprolol

Fluid and/or blood replacement

Surgery

Chemotherapy if malignant

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16
Q

Phaechromocytoma is associated with which other condition?

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

The Endocrine System (35 decks)

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