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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
What are the symptoms of hashimotos
Poor growth cold intolerance cold, dry skin and hair Constipation
26
What are the signs of hashimotos
``` 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
What evaluation is done for hashimotos?
Tests for TSH, free thyroxine, thyroid peroxidase and thyroglobulin antibodies
28
Treatment of hashimotos
Levo-thyroxine
29
Monitoring of hashimotos
Repeat TFT after 4 weeks and aim for TSH within normal range
30
What is the neonatal cause of hyperthyroidism
Transplacentally acquired IgG2 antibodies
31
What is graves disease?
Hyperthyroidism - TSH receptor stimulation by stimulating IgG2 immunoglobulins directed against the receptor
32
Symptoms of graves disease
``` Nervousness and altered school performance weight loss heat intolerance palpitations increased stool frequency ```
33
Signs of graves disease?
Smooth painless goitre and bruit | Sympathetic over activity: flushed, restign tachycardia, tremor, staring eyes, restlessness, hyper-reflexia
34
Diagnosis of graves disease (hyperthyrodism)
Decreased TSH | Increased free thyroxine, T3, TSH receptor stimulatory Ig levels raised
35
Treatment of graves disease
Thionamide drugs to block hormone synthesis and release (carbimazole and propylthiouracil) Radioactive iodine Surgery
36
Signs of puberty in females
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
Signs of puberty in males
Testicular volume >= 4ml or >2.5cm | Delayed if no signs >14 years
38
When is peak growth velocity and mature sperm present?
Testicular volume 10-12 mL
39
What kind of delayed puberty will you have with increased and decreased LH and FSH
Increased: primary gonadal failure Decreased: secondary (central) failure
40
What is the central cause of precocious puberty/?
central causes such as inhibition of GnRH pulsatility
41
Which gender is precocious puberty less common in and what is usually the causes in them?
Less common in boys - will likely have a pathological cause Hypothalamic hamartoma Hydrocephalus Common after CNS insults like infection, head injury
42
What is the diagnosis of precocious puberty in males and females?
Males: testicular enlargement >4mL prior to 9 Females: breast development with accelerated growth rate prior to 8
43
What is the disease of glucocorticoid excess and how does it present?
Cushings syndrome | Hypertension, striae, central obesity, osteoporosis, glucose intolerance GROWTH FAILURE
44
What are the causes of cushings syndrome?
exogenous steroids primary: adrenal tumour or autonomous adrenal function Secondary: ACTH secreting pituitary adenoma causing adrenal hyperplasia (cushings DISEASE)
45
How do you evaluate cortisol?
24 hour urinary free cortisol
46
What is the presentation of mineralocorticoid excess?
hypertension (headaches); hypokalaemia (weakness +/- arrhythmias)
47
Causes of mineralocorticoid excess
Tumour (Conns syndrome) Enzyme defect Excessive liquorice consumption
48
Evaluation of mineralocorticoid excess
elevated aldosterone, suppressed renin | CT or adrenal vein sampling to locate the tumour
49
How does androgen excess present?
Body odour, acne, oily skin, pubic and axillary hair, penile/clitoral enlargement, rapid growth, voice change oligomenorrhoea or infertility in adults
50
What are the causes of androgen excess?
Tumour Congenital adrenal hyperplasia PCOS
51
What is the evaluation of androgen excess?
Measure androgens | Imaging
52
What is the presentation of acute adrenal cortical insufficiency
vomiting, hypertension, shock, hypoglycaemia, arrhythmias (high K), sudden death
53
What is the presentation of chronic adrenal cortical insufficiency?
Insidious, weight loss/abdominal pain, nausea, lethargy, dizziness, aches, pains
54
What is the level of glucose for hypoglycaemia?
<2.5mmol/L
55
What is whipples triad?
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

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