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PEADS > Endocrine/Metabolic > Flashcards

Endocrine/Metabolic Flashcards

1
Q

causes and pathophysiology of T1DM

A

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.

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2
Q

pathophysiology of DKA

A

lipolysis causing the production of ketones which accumulates causing an metabolic acidosis.

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3
Q

Presentation of hypoglycaemia

A

lack of concentration, shaky, colic, LOC, drowsy, convulsions, coma.

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4
Q

diagnosis of diabetes

A

random blood sugar of <11.1 and a fasting blood sugar of >7. With diabetic symptoms. will need two readings if asymptomatic

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5
Q

investigations for query diabetes

A

random and fasting blood glucose.
TFTs, LFTs, U&Es, ANA
Urinalysis
retinal screening

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6
Q

Management of T1DM

A

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.

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7
Q

Complications of T1DM

A

decrease compliance in teenagers - more prone to DKA and hypos.
depression, psychosocial problems.
microvascular, macrovascular complications.
risk of other autoimmune conditions - coeliac, graves, hashimotos.

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8
Q

definition of failure to thrive

A

when a child drops more than 2 centiles on their growth chart (1 if they are already below the 9th centile)

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9
Q

causes of failure to thrive

A

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

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10
Q

key things to ask for failure to thrive history

A

BINDS, recurrent infections, lethargy, feeding history.

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11
Q

investigations for failure to thrive

A

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.

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12
Q

most common cause of ambiguous genetailia

A

congenital adrenal hyperplasia

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13
Q

what is congenital adrenal hyperplasia?

A

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.

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14
Q

three types of ambiguous genetailia

A

se chromosome disorders, excess androgen exposure in XX, or errors in testosterone synthesis and LH deficiency in XY

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15
Q

how common is congenital adrenal hyperplasia?

A

1/18,000 births

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16
Q

enzyme deficiency in XY disorders of sexual development

A

defective testosterone production due to 5-a-reductase deficiency.

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17
Q

what is precocious puberty? who does it commonly effect?

A

signs of puberty in boys <9, girls <8.

5X more common in girls, usually HF, obesity, more common in afrocarribean decent.

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18
Q

central and peripheral causes of precocious puberty

A

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.

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19
Q

management for precisious puberty

A

if no pathology: no need for treatment
if congenital adrenal hyperplasia: glucocorticoids
in central cause: can use GnRH agonists

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20
Q

investigations for precocious puberty

A

Tanner staging of the extent of the puberty.
Bone age
Hormone profile: LH, FSH, TFT, HCG, testosterone
imaging: USS, dexa scan, brain MRI

21
Q

causes of delayed puberty

A

central: constitutional delay, chronic disease, nutritional deficiency, pituitary problems
peripheral: testicular or ovarian damage

22
Q

LH and FSH findings in the central and peripheral causes of pubertal delay

A

Central causes: low LH and FSH

Peripheral: high LH and FSH

23
Q

what happens in each of the tanner stages?

A

stage 1 - pre-pubertal
stages 2-3 - in puberty (height velocity in girls)
stages 4-5 completion (height velocity for boys)

24
Q

What stimulates puberty?

A

resurgence of GnRH, stimulating the maturation of the gonads, increasing FSH and LH.

25
Q

what is constitutional delay?

A

long standing short stature in childhood and slow pubertal progression, strong family history, no management needed, will also have delayed bone age.

26
Q

Name the 4 phases of growth and the key hormomes responsible at each (not at 1st stage)

A

1) Intrauterine - most rapid stage
2) Infantile - thyroxine most important for growth
3) Childhood - growth hormone most important
4) Pubertal - oestrogen/testosterone

27
Q

Investigations for delayed puberty

A

check general health, plot height and weight, tanner staging
hormone levels: LH, FSH, oestrogen, testosterone, prolactin, TFTs
check for evidence of chronic disease
karyotypic
imaging: may need pelvic USS or head MRI of pituitary.

28
Q

causes of congenital hypothyroidism

A

thyroid glad defects - missing or poorly develop
metabolism defects - TSH unresponsive
hypothalamic dysfunction - tumours, ischaemic damage
transient - due to maternal medication or antibodies crossing the placenta.

29
Q

presentation of congenital hypothyroidism

A

Infant: thick protruding tounge, pale skin, constipation, prolonged jaundice, poor muscle tone, bradycardia, umbilical hernia.

growing child: will have sort stature, depressed bride of nose, neurological same and delayed learning development.

30
Q

how is hypothyroidism diagnosed?

A

screening through the heel prick test.

diagnosis: high TSH and low T4.

31
Q

risk factors for congenital hypothyroidism? what is the prevalence?

A

girls, genetic defects PAX8 DUOX2. prevalence is 1/4000

32
Q

causes of obesity: idiopathic, endocrine and genetic

A

Idiopathic - poor diet and reduced exercise, sedentary life
Endocrine - hypothyroidism, Cushing’s disease (short stature, muscle wasting)
Genetic - leptin deficiency, prader-willi syndrome

33
Q

complication of obesity in childhood

A

SUFE (slipped upper femoral epiphysis), MSK pains, poor self esteem, sleep apnoea, T2DM, NAFLD, PCOS.

34
Q

what is phenylketonuria

A

inborn error or amino acid metabolism, also known as folling disease.

35
Q

Causes of phynylketonuria

A

type 1: inherited autosomal recessive, alteration in chromosome 12 - due to absent phenylalanine hydroxylase enzyme activity. (resulting to the build up of phenylalanine).

Can present later, or be secondary due to malignancy.

36
Q

Function of the phenylalanine hydroxylase enzyme

A

Converts dietary phenylalanine to tyrosine, which is used in the formation of neurotransmitters, melanin and catecholamines.

37
Q

Presentation of phenylketonuria

A

most picked up at newborn heel prick screening.

presentation: fair child with blue eyes, developmental delay, seizures, eczematous skin, may have recurrent vomiting.

38
Q

investigation for phenylketonuria

A

heel prick test
urinalysis - raised ketones
tyrosine assay
can use MRI in older children

39
Q

Management of Phenylketonuria

A

Dietary control: low phenylalanine and high tyrosine foods - protein restriction and substitution of he correct amino acid balance
vitamin and iron supplementations

40
Q

Causes of short stature

A

Primary causes:
Familial
Constitutional - delay in bone age and strong FH
Chromosomal
IGUR,
Bone disorders eg osteogenesis imperfecta, achondroplasia)

Secondary causes:
endocrine - Cushing’s, hypothyroidism, GH deficiency
Metabolic - diabetes
Chronic disease - respiratory disease, IBD, malnutrition
Deprivation.

41
Q

Investigations for short stature (if query organic cause)

A

Bloods: FBC, U&Es, Coealic antibodies, TFTs, GH

Bone age - XR of hand and wrist

42
Q

Define short stature

A

2 SD below the mean hight for that age and sex. OR below the 2nd centile.

43
Q

formula for mid-parental hgeight

A

Boy: (Mum Height + Dads Height +13) /2
Girls: (Mum Height + Dads Height -13) /2

44
Q

Assessment of growth

A 
Measure height using Harpenden stadiometer.
Plot of growth charts
Calculate mid-parental height
Bone age - XR of growth plates
Height Velocity
45
Q

How do you correct for PTB when plotting growth?

A

Correct by however many weeks they were pre-term (up to 40 weeks) until they are 2 years of age.
eg if they are born at 32 weeks, need to correct for 8 weeks. if they are seen at 6 months, plot at 6 months minus 8 weeks.

46
Q

What is constitutional delay? what is the management?

A

Long standing short stature and delay to reach puberty. Will have a strong family history, delayed bone age (need to investigate further to rule out organic cause).
No management requirement.

47
Q

what heart defect is associated with turners syndrome?

A

Coarctation of the aorta

48
Q

what is the heart mumur heard in turners syndrome?

A

ejection systolic murmur, due to bicuspid aortic valve

PEADS (6 decks)

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