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FRACP > Endocrine > Flashcards

Endocrine Flashcards

1
Q

What are the 2 layers and the sub layers of the adrenal gland?

What hormones does the adrenal gland include in the order of the layers above?

Which hormones does the medulla produce?

A

Cortex- glomerulosa, fasiculata, reticularis
Medulla

Cortex- aldosterone, glucocorticoids, androgens

Medulla- noradrenaline and adrenaline

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2
Q

What is the main role of cortisol

What three processes therefore does it increase and what happens in each

A

Anti insulin- increases BSL
Gluconeogenesis- amion acids to glucose
Ketogenesis- fatty acids to glucose
Glycogenolysis- glycogen to glucose

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3
Q

What is CAH?

What is the usual pattern of inheritance?

Why might it impact on boys fertility

What skin finding is commonly seen

A

Congenital adrenal hyperplasia
Enzyme defects which cause impaired hormone secretion, increased ACTH and therefore adrenal hyperplasia

Ar

Increased risk of testicular rest Tumours. Destroys normal testicular tissue

Pigmentation

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4
Q

Classical CAH

Which gene is involved

A

CYP21A

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5
Q

CAH
What causes the classical form?
How does it present?
What is seen on bloods?
When do you need to start aldosterone replacement?
Who does the screening test benefit the most.

A

Deficiency in 21 hydroxylase enzyme causes reduced progesterone to dehydrocycortisone
Reduced glucocorticoids and aldosterone. High androgens.

Picked up on newborn screening or
Vomiting and shocked baby. Hypona hyperK metabolic acidosis. Hypotension. Females with ambiguous genitalia. Undervirilised males

Raised 17OHP

When hydrocortisone less than 50mg/m2

Boys with partial enzyme activity

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6
Q

Classical CAH
when does the salt wasting normally occur
How do the excess androgens affect them later

A

10-20 days

Advanced bone age and tall but early growth plate fusion

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7
Q

In classical CAH what does hypertension and a suppressed renin suggest

A

Over treatment with fludrocortisone

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8
Q

CAH
What is the second most common enzyme defect
How does it present?

A

11 beta hydroxylase deficiency

Normal aldosterone, increased DOC causing hypertension, excess androgens

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9
Q

11 beta hydroxylase deficiency
What pathway is affected
What happens the electrolytes and why
How is it treated

A

Reduced doc to corticosterone
Raised DOC acts like high aldosterone
Spironolactone- block the aldosterone

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10
Q

CAH
How does 17 hydroxylase deficiency present?

How does 3B hydroxysteroid dehydrogenase present? How is it differentiated from classical CAH

A

Androgen deficiency. Salt wasting and hypertension. Boys appear like girls, girls don’t have puberty

Low aldosterone and cortisol. Increased DHEA reduced testosterone. Like classical CAH but both genders have ambiguous genitalia
17 OHP to progenolone ratio.

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11
Q

Where is the defect in STAR deficiency

What is the characteristic presentation

A

High up- no cholesterol to pregenolone

Males appear female

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12
Q

Cushings
What is the difference between disease and syndrome
What is the key presenting feature of disease

A

Disease=pituitary adeonma
Syndrome- all other causes
Bitemporal hemianopia

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13
Q

What tumours are associated with raised acth (give 4)

What sign will be common to all

A 
Wilms 
Phaeochromocytoma
Neuroblastoma 
Small cell lung 
Hyperpigmentation
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14
Q

Where is the defect in ACTH independent causes of cushings?

What is the most common acth independent cause of cushings. What is it associated with?
What other syndrome can cause it?

A

Adrenal itself or exogenous steroids

Malignant tumour of the adrenal cortex-Beckwith widemenn

McCune Albright

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15
Q 
Cushings 
What will the electrolytes do? Why?
What is the best initial screening test?
What is the best next test? What should it show 
What are the best next tests?
A

High sodium low potassium. Increased cortisol blocks up and stimulates the aldosterone receptors. High glucose
24 hour urinary cortisol
Dex suppression- suppress early morning peak. If not= disease
ACTH levels. Mri brain if ACTH HIGH or ct abdo IF ACTH LOW

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16
Q

Adrenal insufficiency
What happens to aldosterone and acth. Why?
How does it present
In addisons what type of antibodies develop
What is addisons associated with?
How can steroids cause it?

A

Low aldosterone. Raised acth- negative feedback from low cortisol
Hyperpigmentation, low sodium high potassium
Pyelonephritis
Antiadrenal cytoplasmic antibodies. Autoimmune polyendocrinopathy syndrome
Suppressed normal secretion of ACTH

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17
Q

Adrenal insufficiency
What does the short synacthen test do?
What does it show if it is positive
What use is the long test

What is another blood test that can differentiate between primary and secondary causes

A

Gives exogenous ACTH
should stimulate raised cortisol- not in primary. Delayed in secondary
Long- a secondary cause will have a response. Primary won’t

Renin aldosterone ratio- high renin low aldosterone in primary causes
Normal in secondary causes

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18
Q

What are 2 congenital causes of adrenal insufficiency

What are the most diagnostic tests for them

A

CAH
X linked adrenoleukodystrophy- very long chain FAs
smith lemil opitz- serum 7 DOC

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19
Q

Why do UTIs in babies give a picture of adrenal insufficiency
What happens the cortisol aldosterone and renin

A

Aldosterone resistance!

Normal cortisol, high RAAS

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20
Q

What is conn syndrome and what does it cause?

A

Adrenal adenoma- hyper aldosterone.

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21
Q

What are other causes of aldosterone xs. What will be seen in bloods to dofferentiate from renal causes

A

Renal artery stenosis
Wilms tumours

Hypernatraemia
Hypokalaemia
High blood pressure
High aldosterone but LOW RENIN

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22
Q

What is the 10%rule in paheochromocytoma?

What is the most likely genetic association

A

10% bilateral, malignant, recurr

SDHB mutation

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23
Q

What does thyroid peroxidase convert

What type of hormone is thyroid hormone

A

Iodide to iodine

Lipid hormone

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24
Q

Thyroid
Why is TSH falsely high after birth

What makes up T3 and T4

A

Cord clamping

Thyroglobulin and iodine

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25
Q

Thyroid
What are the 3 most common causes of congenital primary hypothyroidism?
What is pendred syndrome
What is the inheritance of thyroid binding globule deficiency
What should be the initial Investigations be?

A

Thyroid a/dys genesis. Dyshormonogenesis.
Ectopic thyroid

SN deafness and hypothyroid with goitre

X linked

Bloods, ultrasound, nucleotide scan

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26
Q

Thyroid
What is the most common cause of acquired hypothyroidism?
What antibodies are seen?is treatment lifelong?
Do they have a goitre? Do they have eye signs?
What is seen on isotope scan

A 
Hashimotos 
Anti thyroglobulin or peroxidase 
Yes!
Yes goitre no eye signs
Reduced or patchy uptake
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27
Q

What is sick euthyroid syndrome?

What is seen on bloods

A

Transient hypothyroid after surgery or illness

Low t4 normal TSH

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28
Q

Thyroid
What is de quervains thyroiditis
What is the typical sign
What is the pattern of disease

A

Thyroid disease after a viral illness
Tenderness to the thyroid
Low then normal then high

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29
Q

What antibodies are seen Graves’ disease normally? What type of antibodies are they?

A

Thyroid stimulating hormone receptor antibodies

IgG

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30
Q

What are the main side effects of carbimazole

A

Rash, agranulocytosis

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31
Q

Adrenal
What is the role of cortisol
What three things does it increase
What other hormones need it to work

A

Stress response- counter regulates insulin
Increased gluconeogenesis, glycogenolysis and ketogenesis
Glucagon and adrenaline

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32
Q

Thyroid

Which HLAs- hashimotos, graves

A

Graves-B8

Hashimotos Dr4/5

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33
Q

Thyroid binding globule deficiency
How is it inherited?
What is seen on bloods?

A

X linked

Low total t4, normal free t4

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34
Q

Thyroid

What are the risks of neonatal graves

A

Craniosynostosis, low IQ

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35
Q

Outline normal calcium metabolism

Which hormone inhibits this process

A

Vitamin D absorbed by the skin goes to the liver as 25ohvitamin D
Then to the kidney where 1 alpha hydroxylase to 1,25 vitamin d(calcitriol)
Acts on the gut to absorb more calcium
Acts on the bones to increase osteoblasts and osteoclasts and free calcium from the bone
Parathyroid increases this

Calcitonin

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36
Q

What is the main cause of hypoparathyroidism
What syndrome is associated with it
What is seen on bloods

A

Idiopathic
Di George
Low calcium high phosphate abnormally normal PTH

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37
Q

Pseudohypoparathyroidism
What is it
What syndrome is most likely associated
How do you differentiate from hypoPTH

A

Gland is normal but non responsive
Albright hereditary osteodystrophy
Won’t respond to pth stimulation, PTH will be inappropriately high

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38
Q

HyperPTH

What is likely to cause it?

A

PTH adenoma

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39
Q

Why does rickets affect bones?
What most likely causes it?
What is seen on bloods

What is a less likely cause?
What occurs
What gene is defective
What is seen on bloods

A

Formation of unmineralised growth plates
Vitamin D deficiency (sunlight or diet)
Low calcium, secondary raised PTH. LOW PO4

X linked dominant low phosphate. Can’t activate vitamin d
PHEX Gene
Phosphate low ++ but normal calcium and po4

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40
Q 
Timing of hormone release- which hormones?
Continuous
Sleep related
Circadian 
Stress 
Injury
A 
Thyroid 
Prolactin GH 
Cortisol
ACTH 
cortisol
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41
Q

How do you correct sodium for hyperglycaemia

A

Sodium + (glucose/4)

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42
Q

How do you calculate mid parental height for a girl? Boy?

A

(Mum+12.5)+ dad all divided by 2

(Dad-12.5) + mum all divided by 2

43
Q

Growth hormone deficiency
What is the most likely cause of isolated deficiency?
What treatment is it most likely associated with

A

Idiopathic

Radiotherapy

44
Q

Panhypopituitarism

What are the 2 different presentations in congenital and acquired

A

Congenital- gradual growth failure, poor feeding and apnoea at birth. Phenotypically atypical- short neck, small hands and feet, dental crowding

Acquired- born normal then regress, atrophy of gonads or hair, DI

45
Q

What type of cns defects involve hypopituitarism
What else is seen with septo optic dysplasia?
What can cause an acquired panhypopit

A

Midline defects

Nystagmus and visual impairment

Meningitis, base of skull fractures and bleeds, tumours, infiltrates

46
Q

What are the three roles of insulin?

What does each step do?

A

Glycolysis- breaking glucose into atp
Glycogenesis- glucose to glycogen
Lipogenesis- glucose to fat

47
Q

What are the 4 roles of glucagon?

What does each step do?

A

Glycogenolysis- breaking glycogen into glucose
Gluconeogenesis- amino acids to glucose
Lipolysis- lipids to fatty acids
Ketogenesis- fatty acids into ketones

48
Q

What is MODY
WHat is common to all
What is the most common subtype and how does it present? How is it treated? Prognosis?
How does type 2 present

A

Maturity onset diabetes
AD

Type 3- defect hepatocyte factor 1a. Adolescence. Sulphonylurea.

2- defective glucokinase enzymes. Mild diabetes. Small doses of insulin

49
Q

Which HLA subtype is type 1 commonly associated with

A

DR 3/4

50
Q

Does transient diabetes of neonate present with ketosis?

A

No

51
Q

What is needed to diagnose diabetes
Fasting glucose
Hba1c
Random glucose

A

> 7
6.5 (48)
11

52
Q 
Puberty
What happens to the HPG axis pre puberty?
What happens next?
What are the stages in girls?
“Boys?
A

Dormant then increased LH in sleep- gonads enlarge Adrenarche starts because of raised DHEAs
Gnrh released pulsatile- gonads release testosterone and oestrogen

Telarche, adrenarche, gonadarche, menarche
(Breast buds, pubic hair, axillary hair, periods)

Testicular enlargement, pubic hair, phallic growth, axillary hair, growth spurt

53
Q

What is the main hormone lacking in hypoglycaemic unawareness

A

Adrenaline

54
Q

What do infants of diabetic mums have

What happens their glucagon

A

Transient hyper insulinism

Low glucagon

55
Q

Puberty
What is the first sign in girls. What Tanner stage does this equate to?

What is the first sign in boys? What size

A

Breast development- Tanner 2

Testicular size- >3ml

56
Q

In relation to puberty When is female peak height? When is male?

A

Pre menarche

Much later- at end

57
Q

How and when do gonads turn male or female?

A

7 weeks
Start as a bipotential gonad
Y chromosome- SRY gene
Promotes the wolfinnian duct to make testosterone and makes male genitalia
Promotes anti mullerian hormone therefore female structures regress

Female=xx therefore no testosterone so wolfinnian duct regresses and Müllerian duct grows into female structures

58
Q 
Ambiguous genitalia 
If you are 46xy but appear female what is the defect?
How will you appear? 
Do you have a uterus?
What are the gonads?
A

Lack of androgens
Look feminine
No uterus or Fallopian tubes
Testis

59
Q 
Androgen insensitivity syndrome 
What is the karyotype?
What is the inheritance?
Do they have testis? If so where 
Do they have a uterus?
A

46XY
X linked
Yes- usually intra abdominal
No- bling ending vagina

60
Q

What are causes of 46XY appearing female

Give 3 syndromes associated and their main features. What gene are they associated with?

A

Androgen insensitivity
Persisting Müllerian duct
5 alpha reductase deficiency
Gonadal dysgensis

WAGR- wilms aniridia and GU malformations
Denys drash- wilms and ambiguous genitalia
frasier- genitalia issues and renal tubule
Disease
WT1

61
Q 
Ambiguous genitalia
If you are 46XX but appear male what is the cause? 
What is the most likely disease?
What maternal
Conditions may be associated?
A

Excessive androgens
CAH (classical)
Maternal tumours or drugs

62
Q

Ambiguous genitalia
What is a true hermaphrodite?
What is the usual Karyotype?
What is the diagnostic label

A

Both ovarian and testicular tissues
70% 46Xx
Ovotesticular DSD

63
Q

Precocious puberty?
What age group is it considered
What are the 2 types and how do they present differently?
What test will differentiate?

A

<9 boys, <8 girls
Central- presents in the normal order
Peripheral- not “
GnRH stimulation- won’t cause increased FHS or LH if peripheral cause

64
Q 
Precocious puberty
What is the most likely central cause? 
What is seen on mri 
What treatment may cause it and why? 
Give three other tumours that cause it?
A

Hypothalamic hamartoma
Pedunculated mass on mri, can extend to third ventricle
Radiation- causes panhypopit
Astrocytomas, ependymomas, pineal

65
Q

Precocious puberty
What peripheral causes might cause it
What 2 syndromes are associated

A

Adrenal tumours
CAH
Gonadal tumours- ovarian or testicular leidig

Fragile X
McCune Albright

66
Q

McCune Albright syndrome
Gene
Mutation
Triad of issues- What endocrine issues?

A

GNAS
Random mutation
Fibrous dysplasia, unilateral cafe au Laits and endocrine
Hyperthyroid, cushings, precocious puberty, gigantism or acromegaly

67
Q

Delayed puberty
When is it considered in boys and girls?
What is the most likely cause?
What test will diagnose “?

A

> 16 boys, >14 girls
Constitutional delay
Bone age delayed on X-ray

68
Q

Delayed puberty
What is primary hypogonadism otherwise known as?
Give the two syndromes that cause it in boys?
Give the one in girls?

A

Hypergonadotrophic hypogonadism
Noonans & Klinefelters
Turners

69
Q

Noonan syndrome
Associated cardiac features
Endocrine

A

HOCM and pulm stenosis

Delayed puberty- hypergonadotrophic hypogonadism

70
Q

Klinefelter syndrome

What is the karyotype

A

47XXY

71
Q

Turners
Karyotype
Why are they infertile
What in puberty will be early

A

Formation of streak ovaries- ovaries replaced by connective tissue
Andrenarche, rest late

72
Q

Hypogonadotrophic hypogonadism
What 2 syndromes can cause it in boys
What commonly causes it in girls

A

Kallmans and Prader willi

PCOS

73
Q

What autoantibodies are commonly seen in diabetes

Which are the first to appear?

A

GAD Ia2 insulin autoantibodies

Iaa

74
Q

What are the normal insulin requirements
Pre pubertal
Pubertal

A

0.8 units/kg per day

1

75
Q

Why might sodium be low In dka

How do you correct for low na

A

Pseudo hypo na

Measured na + (glucose/4)

76
Q

What percentage of beta cells are lost before type 1 diabetes appears symptomatically

A

80-90%

77
Q

What happens insulin levels in ketotic hypoglycaemia

A

Low

78
Q

Gynaecomastia
What syndrome is it associated with?
Can it be unilateral and painful in pre pubertal causes?

A

Klinefelter

Yes

79
Q

How do pituitary tumours present?
What hormones do you expect to be changed in craniopharyngioma?
Do they cause exaggerated growth?

A

Supratentorial
Deficiency in ant pot hormones and ADH- SIADH
No!

80
Q

What causes acromegaly or gigantism?

What is the difference between the two?

A

Pituitary adenoma that secretes GNRH

Gigantism=after epiphyseal closure

81
Q

What are the two basic tests used for suspected growth hormone deficiency
What is the stimulation test?

A

IGF1 and bone age

Cloned one arginine suppression test

82
Q

Growth hormone
What does it do to blood glucose
What inhibits it?

A

Raises it- anti insulin

Somatostatin

83
Q

Osteogenesis imprefecta
What is the rhyme to remember the subtypes
What is the inheritance
Which have blue sclera

A

1=won- mild to mid
2= too sad- death
3=worst to be- severe disability
4=blue no more- mildest

1&2- blue sclerae
1&4- AD, rest AR

84
Q

What is an example of a biguanide?
What is the most likely side effect?
How does it work

A

Metformin
GI
Increases sensitivity to insulin

85
Q

What is an example of a sulphonylurea?
What is the main side effect?
How does it work?
Can it cause hypo?

A

Glipazide
Rash
Increases insulin secretion
Yes!

86
Q

Thiazolinedinedones
What is an example
How do they work
What are side effects and why might you not use in obesity

A

Pioglitazone
Increases sensitivity to insulin
Abdo pain headache and increases BMI

87
Q

IPEX syndrome
Inheritance? Gene?
What are the three likely features

A

X linked- FOX3

Eczema, diabetes and imunodysregulation

88
Q 
Alstrom syndrome 
Which endocrine disease is it a rare presentation of?
Inheritance 
Gene
What are key features
A

T2 DM
AR
ALMS1
Short with colour blindness and hearing loss

89
Q

What is the most severe form of neonatal diabetes?

How can it be treated?

A

DEND syndrome- dev delay, epilepsy and diabetes.

Sulphonylurea

90
Q

Transient neonatal diabetes
Gene
Inheritance

A

ZAC

Paternal imprinting

91
Q

What Chemo can cause DKA

A

Asparginase

92
Q

What is a somogyi effect
What causes a honeymoon phase
What causes the dawn phenomenon- what is it

A

Rebound high BSLs when BSLs are low ON
residual c peptide
High GH- morning highs

93
Q 
DKA 
What is mild/mod/severe
Why do you get fluid and electrolyte depletion 
How is mild managed 
How is mod or severe managed
A

Mild- ph <7.3, mod <7.2, severe <7.1
Too much glucose to the kidneys- osmotic diuresis, stimulates RAAS, low na and high K

Oral fluids and Sc insulin (0.1 units/kg four hourly)
Bolus of 0.9 if severe or shocked
Start with 0.9%NaCl- replace maint plus defecit of 7-10% over 48 hrs. Add 5% deX when BSL<17
After first hour start insulin (0.1u/kg/hr) and K infusion

94
Q

What is the total daily dose of insulin- pre pubertal? Pubertal?

A

0.8u/kg/day

1 u/kg/day

95
Q

Autoimmune polyendocrinopathy 1
Does it have a genetic association
What are the three classical associations
What else may occur

A

Yes- AR defects of autoimmune regulatory gene
Hypoparathyroid, primary adrenal insufficiency and chronic mucocutaneous candidiasis
Vitiligo, slope is, hepatitis diabetes gonadal dysfunction

96
Q

What tumours are seen in MEN 1

Where is the defect

A

Ps- pancreatic adenoma, parathyroid adenoma and pituitary adenoma
Ch11

97
Q

Polyendocrinopathy type 2
Is there a genetic defect
What are the two most common endocrine features?

A

Not usually

Hashimoto’s thyroiditis and addisons

98
Q

MEN 2
Gene?
Inheritance?
Tumours in A and B

A

Ch 10, AD
a- calcium calcitonin and catecholamine- thyroid medulla, parathyroid adenoma and phaeo

B- big- pituitary adenoma
Belly- phaeo, GI mucosal

99
Q

What insulin dose is given in mild DKA

Is this the same as the infusion used in mod- severe

A

0.1units/kg/dose

Yes but continuous infusion

100
Q

Steroid hormone
Which is immediate release
Which have a long duration

A

Cholesterol

Oestrogen/progesterone, testosterone, aldosterone and cortisol

101
Q

Which two hormones are tyrosine hormones

A

Thyroxine and adrenaline

102
Q

Which hormones are peptide hormones

What type of hormone are they

A

Glucagon, insulin, adh, oxytocin, prolactin, ACTH and PTH

Prohormones

103
Q

What is the difference between leptin and Grelin

A

Leptin- makes you thin- appetite suppressant

Grelin- makes you a fat gremlin- appetite stim

104
Q

How does height affect DEXA scanning

What is normal, osteopenia, osteoporosis

A

Tall- overestimated
Short- underestimated

Normal- >-1
Osteopenia- -1–2.5
Severe less than -2.5

FRACP (23 decks)

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