Endocrinology Flashcards
What antibodies occur in T1DM?
anti-GAD
anti-islet cell
anti-insulin
What are symptoms of T1DM in a child
polyuria
polydipsia
Weight loss
Nocturnal enuresis
What is the late presentation of T1DM?
DKA - smell of acetone on breath GI sx: - vomiting - dehydration - abdo pain Other: - Kussmaul breathing - Hypovolaemic shock - Drowsiness - Coma
What skin features indicate T1DM
Acanthosis nigricans
Skin tags
How is T1DM diagnosed?
Urine dip: glycosuria, ketonuria
Random blood glucose >11.1mmol/L
Fasting glucose: >7mmol/L
High HbA1c: >48
OGTT rarely required
Why does DKA occur?
Insufficient insulin means:
- HIGH blood glucose
- high ketone production
How does insulin affect ketones in a normal person
If person eats meal > blood glucose high > insulin immediately produced > insulin SWITCHES OFF KETONE PRODUCTION as unnecessary
What are the effects of high blood glucose and ketones in a child?
Glucose: osmotically active > polyuria, polydipsia
Ketones: acidotic environment > enzyme dysfunction> coma, death
What is the aim of DKA treatment
Rehydrate FIRST
Switch off ketone production AFTER
how do you calculate fluid deficit in a child?
total deficit volume = % deficit x weight x 10
% deficit is 5% if pH >7.2
7% if pH = 7.15
10% if pH <7.1
How long should you replace fluid deficit over in DKA, and why?
Over 48h
To avoid cerebral oedema
How do you manage DKA in a child?
FLUID BOLUS: 10ml/kg NaCl (if in shock, double)
Start insulin infusion after 1h
Once blood glucose <14 mmol/L, switch to 4% dextrose to avoid hypoglycaemia
why is. hypoglycaemia common in neonates?
Due to high energy requirements
Poor glucose. reserves
What is hypoglycaemia in neonates
Plasma glucose <2.6mmol/l
What are clinical features of hypoglycaemia
swearting
pallor
CNS signs of irritability (headache, seizure, coma)
What are complications of hypoglycaemia
Epilepsy
Severe learning difficulty
Microcephaly
WHat are causes of hypoglycaemia beyond neonatal period
Insulin excess:
- exogenous insulin
- Drug induced (sulphonylurea)
- Insulinoma (beta cell tumour)
- AI
- Beckwith-Wiedemann
Without insulin excess:
- Liver disease
- -Ketotic hypoglycaemia of childhood (following period of starvation, due to poor glucose reserves)
- Error of metabolism
What is management of hypoglycaemia if child is conscious
fast acting glucose 40% gel e.g. Glucogel
What is management of hypoglycaemia if child is unconscious
IM glucagon
IV glucose infusion (5ml/kg of 10ml bolus)
What are causes of congenittal hypothyroidism?
maldescent of thyroid
Iodine deficiency
TSH deficiency
dyshormonogenesis (error of thyroid hormone synthesis)
what is the most common cause of congenital adrenal hyperplasia
21 hydroxylase deficiency
what is the normal function of 21 hydroxylase in the adrenal?
converts progesterone to aldosterone
converts 17-hydroxyprogesterone to cortisol
what occurs to hormones in CAH
Lack of Aldosterone and COrtisol
EXCESS of androgens !!
what is the presentation of acute CAH
virilisation of external genitalia in female
- clitoral hypertrophy
- fusion of labia
excess virilisation in males:
- enlarged penis
- pigmented scrotum
SALT LOSING ADRENAL CRISIS:
- vomiting
- hypotonia
- circulatory collapse
what is the presentation of a partial CAH
tall stature, muscular build, adult bodu opdour, pubic hair, acne
precocious puberty
What investigation should you get if suspecting CAH
17alpha-hydroxyprogesterone: ELEVATED MASSIVELY
what biochem abnormalities occur in salt losers:
low sodium
high potassium
metabolic acidosis
hypoglycaemia
How do you manage an adrenal crisis in CAH
IV saline
IV dextrose
IV hydrocortisone 200mg