Adrenal gland disorders 2 Flashcards
congenital adrenal hyperplasia
inherited group of disorders characterised by a deficiency in one of the enzymes necessary for cortisol syntehsis
when is classic CAH typically diagnosed
infancy
when does non classic CAH present
adolescence/ adulthood with hirsutism, menstrual disturvance, infertiltity due to annovulation
most common cause of cah
21a hydroxylase deficiencyrol
role of 21a hydroxy;ase
criticial role in biosynthesis of cortisol and aldosterone
classical presentation of CAH
Adrenal insufficiency
Often around two to three weeks of age (neonatal period)
Poor weight gain
Biochemical pattern of Addison’s disease
Females
Genital ambiguity (virilisation)
non classical presentation of CAH
Hirsute
Acne
Oligomenorrhoea
Precocious puberty
Infertility or sub-fertility
treatment of CAH in peads
Timely recognition
Glucorticoid replacement
Mineralocorticoid replacement in some
(Surgical correction)
Achieve maximal growth potential
management of CAH in adulthood
Control androgen excess
Restore fertility
Avoid steroid over-replacement
phaeochromocytoma
rare tumour arising from adrenal glands chromaffin cells
chromaffin cells produce and release adrenaline and noradrenaline
tumour causes excessive production of these catecholamines
clues to phaeochromocytoma
Labile hypertension
Postural hypotension
Paroxysmal sweating, headache, pallor, tachycardia
biochemical abnormalities in CAH
Hyperglycaemia – adrenaline secreting tumours
May have low potassium level
High haematocrit – i.e. raised Hb concentration
Mild hypercalcaemia
Lactic acidosis – in absence of shock
who to investiaget
Resistant hypertension
The young with hypertension
Classical symptoms
(Non-classic symptoms if suspicious)
Family members with syndromes/germline mutations in susceptibility genes (see later)
Adrenal incidentalomas
diagnosis of CAH
CT (MRI) Scan
Abdomen/pelvis
(Whole body if paraganglioma suspected)
MIBG – meta-iodobenzylguanidine
PET Scan
Gallium-Dotate Scan
Difficulties with borderline cases
approach to therapy
Full α and β- blockade (Alpha before Beta)
Phenoxybenzamine or doxazosin (α-blocker)
Only when sufficient alpha blockade (i.e. adequate BP control and evidence of postural drop), consider addition of b-blocker
Propranolol, atenolol or metoprolol (β-blocker)
Aim to target heart rate control
High salt diet
Fluid and/or blood replacement
Careful anaesthetic assessment
