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Paediatrics > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

What are the paediatric endocrine disorders?

A 
Diabetes mellitus
Hypoglycemia
Hypothyroidism
Hyperthyroidism
Parathyroid disorders
Adrenal cortical insufficiency
Cushing syndrome
Inborn errors of metabolism
Hyperlipidemia
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2
Q

What is the most common cause of hypothyroidism in children?

A

Congenital

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3
Q

What is the prevalence of diabetes in children?

A

2:1000 by 16 years age

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4
Q

What are the causes for diabetes in children?

A 
Type 1 - most common (autoimmune beta destruction)
Type 2 - insulin resistance (obesity, ethnicity)
Type 3 - MODY (beta/insulin defects, rubella, steroids, Cushing, Down, Turner, pancreatic exocrine failure/CF)
Type 4 (GDM)
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5
Q

What are the genetic associations of diabetes?

A

Identical twin has 40% risk
If type 1 DM in father, 1:40 risk for child
If type 1 DM in mother, 1:80 risk for child
Risk high in HLA DR3 and DR4
Protected in DR2 and DR5

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6
Q

What is the pathogenesis of beta cell destruction in T1DM?

A

Environmental trigger for autoimmunity
Molecular mimicry of beta cell antigen
Eg; Enteroviral infection, Cows milk protein allergy

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7
Q

What are the other autoimmune diseases associated with T1DM?

A 
Hypothyroidism
Addison disease
Coeliac disease
Rheumatoid arthritis
(check in FHx as well)
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8
Q

What are the markers of beta cell destruction?

A

Anti Islet cell Ab
Anti Glutamic acid decarboxylase Ab
Anti Insulin Ab

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9
Q

What are the clinical features of T1DM?

A

2 peaks, preschooler or teen. Seasonal as well
Few weeks of polyuria, polydipsia, weight loss
(classic triad)
Secondary nocturnal enuresis
Skin sepsis
Candida

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10
Q

What are the clinical features of DKA?

A 
Kussmaul hyperventilation
Acetone breath
Abdominal pain
Dehydration
Vomiting
Drowsiness
Hypoveolemic shock
Coma/death
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11
Q

How is T1DM diagnosed?

A

RBS > 11.1 mM + Glycosuria + Ketonuria
FBS > 7 MM
HbA1c 3 times a year with FBC >7.5%

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12
Q

What are the signs of insulin resistance / T2DM?

A

Acanthosis nigricans
Skin tags
PCOM in girls

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13
Q

How is T1DM managed?

A 
Treat DKA first
Rehydrate
Admit if dehydrated needing IV
MDT (Paed, diet, psycho, social, support)
Teach insulin injection, storage
Low refined carb diet
Basal bolus regimen
Sick day rules
Self monitoring of CBS (target 4-10 mM)
How to recognise hypoglycaemia
Keep sugar on hand
Emergency contact
Plot growth charts
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14
Q

What are the types of insulin?

A 
Soluble insulin
Fast analogs (aspart, lispro, glulisine)
Long acting analogs (detemir, glargine)
Intermediate isophane
Mixed
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15
Q

What is the honeymoon period?

A

Shortly after symptomatic, when beta cells are still functioning, insulin need is low/none
Subsequently increase to 1-2 U/kg

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16
Q

What are the symptoms of hypoglycaemia?

A

When BG <4 mM
Hunger, sweating, dizziness, fainting, irritable
Seizures

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17
Q

How is hypoglycaemia treated?

A

Mild - sugary drink/food
Moderate - IV 10%D 2 mL/kg then infusion
Severe - IM Glucagon 1 mg + 5D + food/drink

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18
Q

What is the management of DKA?

A

Ix
RBG, S ketones, U+E, Cr, ABG, U glucose, U ketones, BCx, UCx, CRP, FBC, ECG for hypokalaemia, weight

Mx
SC insulin only if mild

If vomiting or worse
IV NS, resuscitate then over 48 hours drip, IpOp chart
Monitor E, SCr, ABG, prevent aspiration
IVI insulin, 0.1 U/kg/h after 1 hour, titrate with regular CBS
CBS chart lower 2 mM/h, dextrose IV when CBS 14 mM
Continuous cardiac monitoring, K+ chart
Convert to oral feeds and SC insulin
Treat cause, prevent future recurrence

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19
Q

What are the long term aims in managing diabetes?

A 
Normal growth and development
Normal life
Good control
Self management
Prevent hypos
Prevent long term complications 
HbA1c <7.5%
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20
Q

Why is there an increased insulin need in puberty?

A

Growth hormone, estrogen and testosterone are insulin antagonists
Increases from 1U/kg to 2 U/kg per day

21
Q

What are the long term complications of DM?

A 
Growth and pubertal delays
Obesity
Hypertension
Microalbuminuria and nephropathy
Retinopathy or cataract
Foot care
Yearly TSH
22
Q

What is the cut off for hypoglycaemia?

A

< 2.6 mM in neonates

< 4 mM for children

23
Q

What are the possible permanent complications of untreated hypoglycaemia?

A

Epilepsy
Severe learning difficulties
Microcephaly

24
Q

Why are infants and neonates most at risk of hypoglycaemia?

A

High energy requirement
Poor gluconeogenesis and glycogenesis reserves
Cant independently feed
Never starve for more than 4 hours

25
Q

How is hypoglycaemia investigated?

A

Confirm low CBS with a RBS for exact value
Blood for GH, IGF1, Cortisol, Insulin, c peptide, fatty acids, ketones, glycerol, BCAA, lactate, pyruvate
Urine for organic acids

26
Q

What are the causes of hypoglycaemia?

A

Transient neonatal hypoglycaemia (in utero insulin)
Recurrent severe neonatal hypoglycemia (high insulin)
-Iatrogenic insulin
-Insulinoma
-Sulfonylurea
-Insulin receptor antibodies
Ketotic hypoglycaemia (low reserves)
-Liver disease
-Glycogen storage disorders (inborn errors)
-Low GH, ACTH, Addison, CAH

27
Q

How to investigate hyperlipidemia?

A

If Random serum cholesterol > 5.3 mM

Do Fasting serum cholesterol, triglyceride, LDL and HDL cholesterols (fasting lipid profile)

28
Q

What are the secondary causes of hyperlipidemia?

A 
Obesity
Hypothyroidism
Diabetes mellitus
Nephrotic syndrome
Obstructive jaundice
29
Q

What is familial hypercholesterolemia?

A 
AD
LDL receptor defect
1:500
LDL>3.3 mM
Skin and tendon xanthomas
Fix of premature CAD
30
Q

How is hypercholesterolemia treated?

A

Statins
Bile acid sequestrants
Fibrates

31
Q

What is Cushing Syndrome?

A

Clinical state of glucocorticoid excess
ACTH–>Glucocorticoids
ACTH dependent (pituitary adenoma/ectopic ACTHoma, exogenous ACTH)
ACTH independent (adrenal tumours, exogenous glucocorticoids)

32
Q

What are the clinical features of Cushing Syndrome?

A 
Short stature
Obese
Hirsutism
Striae
Bruising
Hypertension
Glucose intolerance
33
Q

How is Cushing syndrome investigated?

A
  1. Confirm with a suppression test (fail to suppress)
    - screen with ODST (1 mg at 2300 then sample at 0900)
    - confirm with LDDST (0.5 mg 6 hourly * 8 doses)
  2. DDx with HDDST (2 mg 6 hourly * 8 doses)
34
Q

How to diagnose inborn errors of metabolism?

A 
Before birth (FHx, unexplained deaths)
After birth
-Screening (PKU, familial hyperchol)
-Normal newborn becoming severely ill
-Infant or child with severe hypoglucemia
-Subacute regression (storage disease)
-Dysmorphism
35
Q

What are the common inborn errors of metabolism?

A

Galactosemia (poor feeding when given milk)
Glycogen storage disease (hypoglycaemia)
Phenylketonuria (DD with blue eyes at 6 months)
Homocystinuria (DD with lens subluxation)
Tyrosinemia (Liver failure)

36
Q

What are the causes of adrenal insufficiency?

A 
Primary
-CAH
-Addison disease
Secondary
-hypopituitarism
-long term glucocorticoid withdrawal
37
Q

What are the clinical features of adrenal insufficiency?

A 
Acute salt losing crisis
-Hyponatremia
-Hyperkalemia
-Hypoglycemia
-Dehydration
-Hypotension
-Shock
Chronic
-Vomiting
-Lethargy
-Brown pigmentation
-Growth failure
-salt craving
38
Q

How is adrenal insufficiency diagnosed?

A

Screen
(low Na high K, low CBS, acidosis)
Confirm
(short synacthen test)

39
Q

How is adrenal crisis managed?

A

IV NS, 10%D and hydrocortisone

Emergency IM hydrocortisone kit

40
Q

What are the features of hypocalcemia (hypoparathyroidism)?

A

Spasms
fits
stridor
diarrhoea
(Prematures, severe rickets, hypoparathyroidism, DiGeorge Xd)
Rx Diluted IV 10% cal gluconate, PO Ca and Vit D

41
Q

What are the features of hyperparathyroidism?

A 
High calcium
Constipation
Anorexia
Lethargy
Polyuria
Polydipsia
(Rx Rehydrate, diuretics, bisphosphonates)
Occurs with adenomas, MEN
42
Q

What is pseudohypoparathyroidism?

A 
PTH normal but defective receptors.
Short 4th metacarpal
Learning difficulties
short stature
obesity
subcutaneous nodules
calcified basal ganglia
43
Q

What are the features of hyperthyroidism?

A

Systemic signs and Eye signs
In teen girls or neonates of Graves mothers
Exopthalmos, ophthalmoplegia, lid retraction, lid lag
Anxiety, hunger, sweating, diarrhoea, LOW, tremor
Rx - Carbimazole, propylthiouracil, beta blockers
SE- neutropenia

44
Q

What is the newborn thyroid physiology?

A

Fetus depends on mothers T4
After birth there is a TSH surge which normalises within a week
(prematures have low T4 and normal TSH)

45
Q

What are the causes of congenital hypothyroidism?

A

Iodine deficiency
Maldescent of thyroid/athyrosis
Dyshormonogenesis
Panhypopituitarism (micropenis, no testes descent)

46
Q

Why is it important to screen newborn for hypothyroidism?

A 
Preventable cause of severe learning difficulties
Common 1:4000
Minimal clinical features
(Heel prick test - high TSH)
Rx T4 after 2 weeks age
Needs lifelong T4
47
Q

What are the causes of juvenile hypothyroidism?

A

Down/Turner syndrome
Autoimmune thyroiditis
Females with growth failure and delayed bone age

48
Q

What are the clinical features of hypothyroidism?

A

Congenital
FTT, feeding problems, prolonged jaundice, constipation, dry skin, coarse facies, large tongue, hoarse cry, goiter, umbilical hernia, DD
Acquired
Short females with delayed puberty, dry skin and hair, cold intolerance, slipped femoral epiphysis, learning difficulties, puffy eyes

Paediatrics (12 decks)

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