Endocrinology Flashcards
Why may congenital hypothyroidism occur
defects in the
- pituitary gland - tumours/ischaemia
- thyroid gland (most common) & NOT inherited
- thyroid hormones themselves Inherited
Can be transient if mum has taken carbimazole or has antibodies
Symptoms of hypothyroidism
Feeding difficulties Somnolence Lethargy Low frequency of crying Constipation
Signs of hypothyroidism
- constipation
- fatigue
- delayed bone age
- myxoedema
- macroglossia
- hypotonia
- prolongation of physiological jaundice
What investigations would suggest a diagnosis of hyothyroidism
- high TSH
- low T4
- measure auto-antibodies
- may require US scan of thyroid
What is the management of hypothyroidism
- levothyroxine (if TFTS persist >2w)
- regular TFTS (can decrease after first 2yrs)
- Aim T4 in upper normal range
- growth charts
What is the prognosis of hypothryoidism
IF early treatment, normal mental development will occur
if delayed spasticity, gait problems and dysarthria and profound mental disability
What is the most common cause of acquired hypothyroidism
Hashimoto’s autoimmune thyroiditis
- usually adolescence
- asoc. with down and turner syndrome
- delays puberty
When may zinc deficiency occur
- premature infats (MAde weeks 20-40)
- no small intestine (60-80% absorbed)
- breast fed babies who’s glands don’t secrete zinc
Clinical features of zinc deficiency
- decreased growth
- stomatatis
- glossitis
- scaley macular/papulur acro-orofacial rash
Which factors are vitamin K dependent
2, 7, 9 10
What is haemorrhagic disease of the newborn
deficiency in vitamin K dependent factors
commoner in pretrm babies as livers are not fully developed
What are the features of haemorrhagic disease of the newborn
intra-cranial haemorrhage
epistaxis
GI bleeding
often solely breast fed
How do you prevent haemorrhagic disease of the newborn
1mg vit K IM at birth
What would you expect to see on blood tests of Kellmans syndrome
hypogonadothropic hypogonadism
- low serum testosterone
- low LH
- low FSH
What is the presentation of Kellmans syndrome
Absent/delayed puberty Reduced smell cryptoorchidism micro penis synkinesia (mirror movements) cleft lip/palette hearing loss dental agenesis
what would you expect to see on bloods in Kleinfelters syndrome
Low testosterone
High FSH + LH
What may present as hypogonadotropic hypogonadism
kellmans syndrome
kleinfelters syndrome
craniophyrigioma
optic glioma
Who should recieve fluid bolus’ in DKA in children
Only give a bolus if they are shocked
- tachycardic
- low BP
- cap refil (may represent vasoconstriction if v. low pH)
What is Kussmals breathing
laboured breathing with the aim of CO2 and ultimately raising the pH
Over what time period do you fluid correct some in dka
48 hrs
How long should you rehydrate someone before starting insulin therapy
1-2 hours - some studies suggest increased risk of cerebral oedema if done earlier
What are signs and symptoms of cerebral oedema
altered conciousness headache agitation high BP unequal pupils abnormal posturing
What is the mortality of cerebral odema
25%
What are the risk factors for developing cerebral odema
- > 40ml/kg of fluid bolus’
- low CO2
- younger age
- hyperventilation with intubation
What is the management of cerebral odema
- early intensive care involvement
- 3%hypertonic saline or 20% mannitol
What is diabetes mellitus
group of metabolic diseases characterised by chronic hyperglycaemia resylting from defects in insulin secretion, insulin action, or both.
What is T1 diabetes
- autoimmune T cell mediated pancreatic islet cell destruction
- Antibodies to islet cells (ICA) (IAA) and insulin are found in 80-90% of people
Inheritence of which antigens increase the risk of diabetes by 10-15 fold
DR3 & DR4
What are the risk factors of T2DM in children
Symptoms occur in association with:
- overweight/obesity
- > 10 YO
- Strong FH
- acanthosis nigricans
- undetectable islet auto-Ab
- elevated C peptide
What is the management of T2DM in children
metformin
What is monogenic diabetes (maturity onset diabetes of the young)
- autosomal dominant
- mutation in HNF gene (hfn1a)
What are the features of monogenic diabetes (maturity onset diabetes of the young)
- Young age of onset
- strong FH of diabetes
- low insulin requirements in non-obese children
What are the investigations for monogenic diabetes (maturity onset diabetes of the young)
Urine C peptide createnine ratio
genetic testing - confirmation
What is the management of HNF1-A MODY and HNF4-A MODY
sulfonylurea (glibenclamide/gliclazide)
What is the management of MODY with mutation of GCK gene
- causes very mild hyperglycaemia and does not need treatment
What complication is associated with HNF1-B MODY
renal cysts
Diagnosis of DM
- Sx + random glucose >11.1
- Fasting lasma glucose >7
- 2 hr post-load glucose >11.1
What are the 4 insulin regimes
- 2x premixed (short and intermiediate)
- 3x premixed (short and long)
- Basal-bolus (long BD and short with meals)
- Insulin pump therapy - rapid acting to stabelise variation in sugar with activity and food intake
What is the current targey HbA1C
48
What complications/conditions are associated with T1DM
- coeliacs disease
- thyroid disease
- retinopathy
- microalbuminaemia
- BP
When should coeliacs disease be screened for in the context of diabetes
at diagnosis
When should thyroid disease be screened for in the context of diabetes
at diagnosis
annually
When should retinopathy, microalbuminaemia and BP be screened for in the context of diabetes
Annualy after the age of 12
What is the commonest complication of T1DM
hypoglycaemia
What is considered hypoglycaemia
<3.9
symptoms of hypoglycaemia
headache dizziness nausea blurred vision trembling seizures coma
Management of mild to moderate hypoglycaemia
- glucose tablets/glucogel or juice
2. slow acting carbs
Management of severe hypoglycaemia
- glucagon injection 0.5mg <8 yo or body weight <25kg
- glucagon inject 1mg if >8yo or body weight >25kg
- subcut or IM
causes of hypoglycaemia
- excessive bolus insulin dose
- target levels set too low by doctor
- illness
- exercise without extra carb or reduced bolus/basal insulin
- delayed effect of exercise
- alcohol
gastroparesis - basal insulin too high
- infrequent blood glucose monitoring
What findings indicate acidosis on a gas
pH <7.3
Bicarb <15
In a shocked patient with DKa what fluid bolus do you give
20ml/kg over 15 mins
In a non shocked patient in DKA but it’s felt that IVF is required what dose do you give
10ml/kg over 60 mins
over how long do you relplace fluid deficit in a patient with DKA
48 hours
What are the typical suggested rates of insulin in DKA
0.05 Units/kg/hr and 0.1 Units/kg/hr
How does primary hypothyroidism present
fatigue attenuated growth cold intolerance constipation declining school performation dry skin coarse hair goitre
What investigations should you do if ? primary hypothyroidism
- Free T4 - LOW
- TSH - HIGH
How does secondary hypothyroidism present
Fatigue Poor growth cold intolerance constipation dry skin coarse hair
What investigations should you do if ? secondary hypothyroidism
T4 - LOW
TSH - Low or normal
Features of cushing’s syndrome
attenuated growth violacesous striae buffalo hump central adiposity moon face hirstutism hypertension diabetes
investigations for Cushings
elevated 24hr urinary free cortisol is elevated
Features of Prader Willi syndrome
short stature small hands and feet almond shaped eyes picking on skin delayed pubery developmental delay hyperphagia poor feeding and hypotonia as an infant
investigations Prader-Willi
imprinting error on Cr 15
Features of Bardet-Biedl
dysmorphic extremeties retinitis pigmentosa developmental delay hypogonadism renal defects
Features of anorexia that require medical management and admission
BMI <13 HR <40 Hypokalaemia <3.0 Hyponatraemia <130 QTC >450 core temp <35
Features of Batters syndrome
renal channelopathy: - hypochloraemic metabolic alkalosis - hyponatraemia - hypokalaemia presents similar to CAH
Features of Liddles syndrome
rare primary renal channelopthy
- HTN
- metabolic alkalosis
- hypokalaemia
- hyponatraemia
- presents in late childhood or adulthood
What defect is seen in Batters syndrome
loos of function in Na-K-Cl co transporter of the thick ascending limb of the loop of henla
WHat defect is seen in Liddles syndrome
gain of function in epithelial sodium channel in renal collecting tubule
What features would you see in bilateral adrenal hyperplasia or primry hyperaldosteronism (Conn syndrome)
hypokalaemia
normal/high sodium
What defect is seen in bilateral adrenal hyperplasia or primary hyperaldosteronism (Conn syndrome)
gain of function in KCNJ5 in adrenal gland
Features of Gitelman syndrome
renal channelopathy
- hypokalaemia
- hyponatraemia metabolic alkalosis
- hypocalcuria
Presenting features of addisons disease
fatigue/lethargy myalgia GI symptoms hyperpigmentation - assoc with other autoimmune conditions
Blood work of addisions
- hypoglycaemia if in crisis
- high renin
- hyponatraemia
- hypokalaemia
Presentation 21-hydroxylase deficiency
salt losing crisis
premature isosexual development
hypertension (11b hydroxylase deficiency)
virilisation of girls
What is isosexual development
small testes
large penis
large scrotum
What is virilization
development of male physical features e.g. increased muscle bulk, body hair and deep voice in females or precociously in male
What is the management of CAH
hydrocortisone for corticosteroid replacement
fludrocortisone for mineralocorticoid replacement
inheritance pattern in CAH
autosomal recessive
findings for CAH - 21-hydroxylase deficiency
raised serum 17 hydroxyprogesterone
raised urinary pregnantriol
findings for CAH - 11b hydroxylase deficiency
raised serum 11deoxycortisol and 11 deoxycorticosterone.
