What is congenital adrenal hyperplasia?
A group of rare genetic conditions associated with enzyme defects in the steroid pathway
What is the most common type of congenital adrenal hyperplasia?
Congenital adrenal hyperplasia is autosomal _________
Congenital adrenal hyperplasia is autosomal recessive
What are the variants of 21 hydroxylase deficiency?
- Simple virilising
How does classical CAH present in males and females respectively?
- Adrenal insufficiency
- Poor weight gain
- Addison's disease biochemical pattern
- Ambiguous genitalia
How does non-classical CAH present?
- Precocious puberty
- Infertility or sub-fertility
How is CAH treated in children?
- Glucocorticoid replacement
- Mineralocorticoid replacement (not all require)
- Surgical correction
How is CAH treated in adults?
- Control androgen excess
- Restore fertility
(avoid over-replacing steroids)
What are some clinical clues for a phaeochromocytoma?
- Labile (changeable) hypertension
- Postural hypotension
- Paroxysmal sweating, headache, pallor, tachycardia, constipation, anxiety, palpitations, breathlessness
Which complications may arise from phaeochromocytoma?
- Myocardial necrosis
- Paralytic ileus of bowel
What are the biochemical abnormalities associated with a phaechromocytoma?
- Low potassium
- High Hb
- Hypercalcaemia (mild)
- Lactic acidosis
Who should be investigated for a phaeochromocytoma?
- People who have familty members with the condition
- Resistant hypertension (especially young)
- Classic symptoms
- Hypertension and hyperglycaemia
How can catechloamine excess be identified?
Urine - 2 x 24hr catecholamines or metanephrins
Plasma - ideally at time of symptoms
How can a phaeochromocytoma be diagnosed?
- MRI scan of whole body
- PET scan
How is phaeochromocytoma treated?
Full alpha and beta blockade (alpha before beta)
- Propranolol, atenolol or metoprolol
Fluid and/or blood replacement
Chemotherapy if malignant
Phaechromocytoma is associated with which other condition?