Endocrine/Metabolic Flashcards
causes and pathophysiology of T1DM
genetic predisposition which is then triggered after a viral infection, T cell mediated autoimmune destruction of B cells.
results in inability to secrete insulin, reduced fluid uptake leading to hyperglycaemia, dehydration and loss of electrolytes.
pathophysiology of DKA
lipolysis causing the production of ketones which accumulates causing an metabolic acidosis.
Presentation of hypoglycaemia
lack of concentration, shaky, colic, LOC, drowsy, convulsions, coma.
diagnosis of diabetes
random blood sugar of <11.1 and a fasting blood sugar of >7. With diabetic symptoms. will need two readings if asymptomatic
investigations for query diabetes
random and fasting blood glucose.
TFTs, LFTs, U&Es, ANA
Urinalysis
retinal screening
Management of T1DM
Target HbA1c <48 without frequent hypoglycemia
lifestyle: healthy diet, awareness of sugar content and spikes, regular carbohydrate intake.
insulin therapy: sub cut injections, long acting and rapid release. pens, pumps are available.
Complications of T1DM
decrease compliance in teenagers - more prone to DKA and hypos.
depression, psychosocial problems.
microvascular, macrovascular complications.
risk of other autoimmune conditions - coeliac, graves, hashimotos.
definition of failure to thrive
when a child drops more than 2 centiles on their growth chart (1 if they are already below the 9th centile)
causes of failure to thrive
inadequate intake - incorrect feeding, poor technique, difficult child
increases outward products - vomiting, GI disturbance, neurological problems
increased requirements - congenital heart defects, respiratory conditions, immunodeficient
non-organic cause - neglect, eating disorders, Munchausen syndrome
key things to ask for failure to thrive history
BINDS, recurrent infections, lethargy, feeding history.
investigations for failure to thrive
assessment for signs of neglect, maternal/paternal mental health.
• Bloods: FBC (may be anaemic), ESR, CRP, U&E, LFTs, TFTs
• Coeliac screen, urinalysis, CXR, CF sweat test.
• Genetic testing/karyotyping if indicated.
most common cause of ambiguous genetailia
congenital adrenal hyperplasia
what is congenital adrenal hyperplasia?
reduced synthesis of hydrocortisol due to an absent 21 hydroxylase enzyme. this results in inefficient steroid hormones, increased aCTH and increased cortisol hypertrophy and increased androgens. Effects females.
three types of ambiguous genetailia
se chromosome disorders, excess androgen exposure in XX, or errors in testosterone synthesis and LH deficiency in XY
how common is congenital adrenal hyperplasia?
1/18,000 births
enzyme deficiency in XY disorders of sexual development
defective testosterone production due to 5-a-reductase deficiency.
what is precocious puberty? who does it commonly effect?
signs of puberty in boys <9, girls <8.
5X more common in girls, usually HF, obesity, more common in afrocarribean decent.
central and peripheral causes of precocious puberty
central: gonadotrophin dependent - premature activation of HPA, no cause or rarely due to CNS lesion
peripheral: gonadotrophin independent - gonad maturation without GnRH stimulation, due to Congenital adrenal hyperplasia, hypothyroidism, McCune-Albright syndrome.
management for precisious puberty
if no pathology: no need for treatment
if congenital adrenal hyperplasia: glucocorticoids
in central cause: can use GnRH agonists