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REPRO + ENDO > 4.4 and 4.5 Endocrine disorders in childhood > Flashcards

4.4 and 4.5 Endocrine disorders in childhood Flashcards

1
Q

define endocrine

A

Pertaining to internal secretion of chemical transmitters (hormones), transmitted via the circulation to act on a receptor in a distant tissue

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2
Q

Define paracrine

A

Form of signalling in which the target cell is close to the signal releasing cell. Neurotransmitters and neurohormones are usually considered to fall into this category

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3
Q

Define autocrine

A

Secretion of a substance, such as a growth factor, that stimulates the secretary cell itself. One route to independence of growth regulation is by autocrine growth factor production by cells

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4
Q

Define intracrine

A

action of peptide hormones or growth factors after internalisation or retention in their cell of origin.

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5
Q

Define primary

A

the end organ is affected and where counter-regulation exists, the stimulating hormone level rises.

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6
Q

Define secondary

A

failure of the regulating gland

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7
Q

Define tertiary

A

Autonomous secretion may persist despite correction of underlying problem

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8
Q

what is a congenital disease and when does it usually manifest?

A

result from discorded embryogenesis (aplasia, hypoplasia, dysplasia)
Usually manifests in the first 2 years post natal

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9
Q

What is an acquired disease and when does it usually manifest?

A

usually manifests in childhood or adolescents and can be precipitated by treatments

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10
Q

What are some causes of hypofunction and give an example?

A

Genetic (Pit-1 and PROP-1 causing hypopituitarism)
Autoimmune (thyroid - type 1 diabetes)
Infiltration/disruption (tumour, surgery, radiation damage)

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11
Q

Causes of hyperfunction and examples

A

Immune related (Graves diseases)
Loss of inhibition (central precocious puberty following CNS radiation or infection
Autonomous function (gonad to thyroid or adrenal)
Tumour (hormonally active or secondary stimulation)

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12
Q

is congenital hypothyroidism usually primary or secondary?

A

99% primary

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13
Q

What is the commonest cause of congenital hypothyroidsm and how is it tested for?

A

Iodine deficiency, babies tested will heel prick test on day 3 of life

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14
Q

What are the levels for re-test and diagnosis of congenital hypothyroidsm with heel prick?

A

13-30 umol/l = borderline - retest

>30 u/mol = formal thyroid function test

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15
Q

What were the clinical features of congenital hypothyroidism prior to heel prick?

A 
Prolonged jaundice 
low temperature/motrled peripheries 
bradycardia 
delayed bone maturation 
poor growth 
large tongue 
puffy eyes 
hoarse cry 
umbilical hernia 
will lose 10 IQ points for each month undiagnosed over teh age of 1 month
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16
Q

Treatment of congenital hypothyroidism

A

Levo-thyroxine tablets
regular checks of growth and development
Monitoring thyroid function tests

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17
Q

What can under dosing treatment of congenital hypothyroidism cause?

A

poor growth, impaired intellectual development

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18
Q

What can overdosing treatment of congenital hypothyroidism cause?

A

Craniosynostosis (premature suture fusion), poor weight gain and irritability

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19
Q

What is the main cause of congenital hyperthyroidism

A

Transplacental transfer of maternal TSH receptor stimulating antibodies

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20
Q

what is the treatment of congenital hyperthyroidism

A

medications that block thyroxine biosynthesis and release (carbimazole and propylthiouracil)

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21
Q

Causes of acquired hypothyroidism

A

Autoimmune (commonest)
Drugs (lithium, amiodarone, iodine, sulphonamides)
Foods (cabbage, cauliflower, brussel sprouts)
Radiation (risk of nodule formation and malignancy)

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22
Q

What is the name of autoimmune hypothyroidism?

A

Hashimotos

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23
Q

What is Hashimotos diseases and what antibodies will be raised?

A

T cell mediated chronic inflammation

Anti-thyroid peroxidase and anti-thyroglbulin will be raised

24
Q

What is the presentation of sub clinical hashimotos

A

Rising TSH with normal thyroxine

25
Q

What are the symptoms of hashimotos

A

Poor growth
cold intolerance
cold, dry skin and hair
Constipation

26
Q

What are the signs of hashimotos

A 
Insidious painless smooth thyroid enlargement 
Short with young face 
Slow pulse rate 
Shallow complexion 
dry skin with mottled peripheries 
Dry hair 
delayed dentition  
May occasionally get precocious puberty if severe
27
Q

What evaluation is done for hashimotos?

A

Tests for TSH, free thyroxine, thyroid peroxidase and thyroglobulin antibodies

28
Q

Treatment of hashimotos

A

Levo-thyroxine

29
Q

Monitoring of hashimotos

A

Repeat TFT after 4 weeks and aim for TSH within normal range

30
Q

What is the neonatal cause of hyperthyroidism

A

Transplacentally acquired IgG2 antibodies

31
Q

What is graves disease?

A

Hyperthyroidism - TSH receptor stimulation by stimulating IgG2 immunoglobulins directed against the receptor

32
Q

Symptoms of graves disease

A 
Nervousness and altered school performance 
weight loss 
heat intolerance 
palpitations 
increased stool frequency
33
Q

Signs of graves disease?

A

Smooth painless goitre and bruit

Sympathetic over activity: flushed, restign tachycardia, tremor, staring eyes, restlessness, hyper-reflexia

34
Q

Diagnosis of graves disease (hyperthyrodism)

A

Decreased TSH

Increased free thyroxine, T3, TSH receptor stimulatory Ig levels raised

35
Q

Treatment of graves disease

A

Thionamide drugs to block hormone synthesis and release (carbimazole and propylthiouracil)
Radioactive iodine
Surgery

36
Q

Signs of puberty in females

A

breast budding and increase in growth velocity
Precocious if < 8 years
Delayed if no breast developmet by 13.5 or no menses 4.5-5.5 after breast development begins

37
Q

Signs of puberty in males

A

Testicular volume >= 4ml or >2.5cm

Delayed if no signs >14 years

38
Q

When is peak growth velocity and mature sperm present?

A

Testicular volume 10-12 mL

39
Q

What kind of delayed puberty will you have with increased and decreased LH and FSH

A

Increased: primary gonadal failure
Decreased: secondary (central) failure

40
Q

What is the central cause of precocious puberty/?

A

central causes such as inhibition of GnRH pulsatility

41
Q

Which gender is precocious puberty less common in and what is usually the causes in them?

A

Less common in boys - will likely have a pathological cause
Hypothalamic hamartoma
Hydrocephalus
Common after CNS insults like infection, head injury

42
Q

What is the diagnosis of precocious puberty in males and females?

A

Males: testicular enlargement >4mL prior to 9
Females: breast development with accelerated growth rate prior to 8

43
Q

What is the disease of glucocorticoid excess and how does it present?

A

Cushings syndrome

Hypertension, striae, central obesity, osteoporosis, glucose intolerance GROWTH FAILURE

44
Q

What are the causes of cushings syndrome?

A

exogenous steroids
primary: adrenal tumour or autonomous adrenal function
Secondary: ACTH secreting pituitary adenoma causing adrenal hyperplasia (cushings DISEASE)

45
Q

How do you evaluate cortisol?

A

24 hour urinary free cortisol

46
Q

What is the presentation of mineralocorticoid excess?

A

hypertension (headaches); hypokalaemia (weakness +/- arrhythmias)

47
Q

Causes of mineralocorticoid excess

A

Tumour (Conns syndrome)
Enzyme defect
Excessive liquorice consumption

48
Q

Evaluation of mineralocorticoid excess

A

elevated aldosterone, suppressed renin

CT or adrenal vein sampling to locate the tumour

49
Q

How does androgen excess present?

A

Body odour, acne, oily skin, pubic and axillary hair, penile/clitoral enlargement, rapid growth, voice change
oligomenorrhoea or infertility in adults

50
Q

What are the causes of androgen excess?

A

Tumour
Congenital adrenal hyperplasia
PCOS

51
Q

What is the evaluation of androgen excess?

A

Measure androgens

Imaging

52
Q

What is the presentation of acute adrenal cortical insufficiency

A

vomiting, hypertension, shock, hypoglycaemia, arrhythmias (high K), sudden death

53
Q

What is the presentation of chronic adrenal cortical insufficiency?

A

Insidious, weight loss/abdominal pain, nausea, lethargy, dizziness, aches, pains

54
Q

What is the level of glucose for hypoglycaemia?

A

<2.5mmol/L

55
Q

What is whipples triad?

A

Symptoms known or likely to be caused by hypoglycemia
A low plasma glucose measured at the time of the symptoms
Relief of symptoms when the glucose is raised to normal

REPRO + ENDO (18 decks)

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