Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

RACP Written > Endocrine > Flashcards

Endocrine Flashcards

1
Q

What are the three types of hormones?

A

Steroid (all from cholesterol)- cortisol, estrogen
peptide (prohormones that need to be cleaved) - insulin
and amine hormones- from tyrosine ie thyroxine, adrenaline

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the order of action of these hormones in hypoglycemia?
Noradrenaline, growth hormone, glucagon, cortisol

A

N G C G
Norad
Glucagon
Cortisol
Growt hormone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is common about TSH/LH/FSH/bHCG?

A

They all share the same alpha subunit

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the average height growth during puberty?

A

30cm (think a ruler)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How do you calculate mid parental height?

A

for girls: maternal height in cm + (paternal height minus 13cm) divided by 2.
for boys: paternal height in cm + (maternal height plus 13cm) divided by 2.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What syndromes are associated with short stature?

A

Turners, Russel Silver, Down’s syndrome, Prader Willi
Also achondroplasia, mucopolysaccharidoses (severe short stature in Morquio syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are three endocrine causes for short stature?

A

Hypothyroidism, Growth hormone insufficiency and cushings

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the definition of constitutional short stature? How do you confirm diagnosis?

A

In teenage boys- delayed growth and puberty.
CONFIRM DIAGNOSIS with delayed bone age
They reach their genetic potential but later. Can give testosterone to kickstart process if really required

This is different to familial where they are short because family is short.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

When do boys and girls growth plates close?

A

Boys close at 15-17cm
Girls close at 13-15cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the investigations for short stature?

A

FBC/UEC/LFT
THyroid
Coeliac
Karyotype in females!
IGF-1 and IGF-BP3 levels.
Bone age
PTH/Ca/Mg/Phos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

When should short stature be referred?

A

If height is less than 3 standard deviations below mean OR 6cm below 3rd centile

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is clinodactyly?

A

Curving of the finger, usually fifth finger.
Present in Downs syndrome commonly, also Russel Silver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is important to measure in a patient with Turners prior to commencing hormones to intiate puberty?

A

FSH! (NOT BONE AGE)
Do this to confirm there is gonadal failure. If no FSH, need ultrasound to make sure gonads are present.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are causes of advanced bone age from an endocrine perspective? (6)

A

Everything up
1. Hyperthyroidism
2. Hyperpituitarism
3. Cushings
4. Precocious Puberty
5. Adrenal pathology (hyperplasia)
6. Intracranial lesions ie astrocytoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are syndromic causes of advanced bone age?

A

McCune-Albright syndrome (due to precocious puberty), Sotos syndrome, Beckwidth-Wiedeman syndrome, Homocystinuria, Kleinfelters

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What chromosomal disorders or syndromes cause tall stature? (Think overgrowth)

A

Kleinfelters, Marfans, Sotos, Homocystinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are 3 endocrinological blood investigations for tall stature?

A

IGF-1, GH and TFTs.
Then look into sex hormmones etc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Which syndrome has ectopia lentis? (Marfans vs Loeys Dietz vs homocystinuria)

A

Marfans and Homocystinuria
Marfan people eat ectopic lentils UPWARDS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is one distinguishing feature between Marfans and LoeysDietx

A

LD= bifid uvula
Marfans= high arched palate.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Which one has higher risk of early aortic dissection? (From Marfans and Loeys Dietz)

A

Loeys Dietz

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Where is ectopia lentis in Marfans vs Homocystinuria?

A

UP in Marfans
DOWN in Homocystinuria
‘Marfans eat UP ectopic lentils’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Difference between Marfans and Homocystinuria?

A

Ectopia lentils- UP in Marfans, DOWN in Homo
Also Homo has intellectual dsability (think, takes a lot of brain power to pee)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the 3 syndromes with Marfanoid presentations?

A

Loeys Dietz- bifid uvuala
Homocystinuria- DOWN ectopia lentis
Shprinzen-Goldberg syndrome- milder symptoms but also has craniosynostosis and intellectual disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are clinical features of Sotos syndrome?

A

Overgrowth syndrome. Aut dom
BW and length >90th centile
Excessive height velocity in first few years. Large hands and feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are the three treatments for congenital hyperinsulinism?

A

Diazoxide: cause hirsutism, oedema and nausea
Somatostagin analouge ie octreotide. Causes growth disturbance, hepatitis, necrotising enterocolitis
Sirolimus
Total pancreatectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What are the two factors controlled primarily by hypthalamus?

A

Temperature and appetite
Appetite via leptin and Ghrelin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Where is the origin of the anterior vs posterior pituitary>

A

Anterior- from oral ectoderm
Posterior- neural ectoderm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is released in ant pituitary

A

ACTH, GH, LH, FSH, TSH, prolactin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is released in posterior pituitary?

A

Oxytocin and ADH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Where is Growth hormone released from and where does it act?

A

Released from anterior pituitary, acts on liver to make IGF-1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is the PATTERN of secretion for growth hormones

A

Pulsatile secretion with peaks and troughs. Steady increase in childhood, PEAK in puberty and augmented by sex hormones.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the 3 main hormones involved in control of GH secretion?

A

GHRH, ghrelin and somatostein.
(Ghrelin released by stomach when hungry)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What do LH and FSH do for males ?

A

LH: Leydig cells to cause production of testosterone. 5a redustase converts to hidydrotestosterone
FSH: Sertoli cells for Sperm production

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What do LH and FSH do for females

A

LH: bind to ovarian cells and stimulates steroidogenesis ie ANDROGENS
FSH: binds to glomerulosa cells and stimulates conversion of testosterone to oestrogen (By producing aromatise)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

How are LH and FSH secreted or triggered?

A

Pulsatile GnRH secretion.
HIGH at birth, low in childhood and nightime increase leading up to puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

How is TSH secretion regulated from pituitary>

A

TRH from hypothalamus, goes to pituitary for TSH.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is the action of ACTH?

A

Stimualtes adrenal cortex, esp cortisol. Important in foetal adrenal growth.
CRH stimualtes ACTH (corticotrophin releasing hormone,)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

How is the regulation of vasopressin done?

A

Through detection of serum osmolality

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What does ADH do?

A

Insertion of acquaporin into collecting ducts to allow urine sodium concentration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What is the presentation for septo-optic dysplasia?

A

Optic nerve hypoplasia
Absence of septum pellucidum and/or corpus callosum AND pituitary deficiency (commonly growth hormone def)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What is a common deficiency or problem post treatment of a craniopharyngioma?

A

Hormone def in anterior and posterior pituitary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What does a craniopharyngioma present with?

A

Rememeber remnant of Rathke’s pouch.
Presents with headaches and visual field disturbance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is the definition of diabetes insipidis? Where does the condition origin?

A

Posterior pituitary OR nephrogenic disorder and due to insufficient ADH secretion leading to polyuria and polydipsia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

How can you decompensate in diabetes insipidus?

A

So, if can drink copius amounts of water (thirst intact) then nil issues and can maintain osmolality despite excessively dilute urine.
If no thirst –> HyPERnatremic dehydration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

In diabetes insipidis, what happens if there is a concurrent anterior pituitary dysfn? (Think ant pituitary hormones)

A

Cortisol needed to secrete water so if not present, and giving vasopressin, will get dilutional hyponatraemia.
Solution is to increase hydrocort and stop DDAVP (vasopressin)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What are some central causes of diabetes insipidus

A

Think of all the things affecting POSTERIOR pituitary ie
Craniopharyngioma, germinoma, langerhan cell histiocytosis, trauma, serp-optic dysplasia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is A renal cause of daibetes insipidis>

A

X linked nephrogenic diabetes insipidus, secondary to renal damange

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

How to differentiate between psychogenic polydipsia and diabetes insipidis?

A

Psychogenic: will have dilute urine during the day (because drinking water) but first morning urine should be normal osmolality as not diluting from drinking water and has normal functioning kidney and ADH.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is SAIDH?

A

Water retention due to inappropriate ADH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What are some causes of SIADH?

A

head: meningitis, abscess, HIE
lungs: Pneumonia, cavitation
malignancies: lymphoma, bronchogenic carcinoma, idiopathic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the treatment for SIADH?

A

Fluid restriction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What are the steps for a water deprivation test and what is it sued for?

A

Used to diagnose diabetes insipidis.
1. Weight and deprive water for max 7 hours
2. Mointor urine osmolality hourly
3. Plasma sodium and osmolality 2 hourly

STOP test if:
1. Weight falls by >5%
2. Serum osmolality >300 with inappropriate dilute urine <300
3 Clincially unwell.

If can progress, give DDAVP once plasma osmolality >300 and measure.
If urine osmolality >300, then central DI otherwise nephorgenic.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What is the difference between central and nephrogenic DI?

A

Central= absence of ADH
Nephrogenic= insensitivity to ADH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What causes release f LH and FSH from pituitary

A

GnRh

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Mechanism by which steroids cause neutrophilia?

A

Neutrophil diapedesis (adhesion to and migration through the vascular endothelium) and chemotaxis (migration to the site of inflammation) is severely impaired by glucocorticoids, particularly when given at high doses. This increases the number of circulating neutrophils, as they are unable to move from the intravascular space.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is the difference between primary and secondary sexual characteristics?

A

Primary= genital growth, gonadal development and function, spermatogenesis and menses

Secondary= everything else, measured on Tanner scale is pubic hair, body odour, voice change, breast development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What are the pubertal stages for females?

A

TPM
Thelargic
Pubarche (same as adrenarche)
and Menarche

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is the order of puberty in males?

A

TPP (because boy always need to pee)
Testicular enlargement, penile growth, pubic hair growth, peak height velocity and sperm.
Easier to visualise.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Which hormone is important for breat development and growth acceleration? What causes fusion of growth plates in a short period of time from increased secretion

A

Estrodiol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

When is mini puberty?

A

1-2 months, high FSH and LH but no peripheral effets

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What causes regression of the mullerian ducts? What cells secrete it?

A

Sertoli cells release AMH which causes regression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Which cells do FSH act on in females?

A

GranuloSA cells.
fSh, loSa..

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What is the definition of precocious puberty?

A

<2.5std from mean.
<8 in girls and <9 in boys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What are the 3 categories of causes for causse of precocious puberty?

A

Central, peripheral and benign/non-progressive periphearl variants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What are central causes of precocious puberty? What is the most common cause?

A

MOST COMMON = benign hypothalamic haemartomas
Others are tumours in CNS, malformation, irradiation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What are peripheral causes of precocious puberty

A

Adrenal, ovarian, testicular tumours, McCUne Albright syndrome leading to EXCESS steriod production.
So increased testosterone and estadiol with reduced LH and FSH due to feedaback

67
Q

What is the most common deficiency from intracranial surgery?

A

Growth hormone def

68
Q

What is the gold standard test for precocious puberty?

A

GnRH stimualtion test. Measure maximal LH levels post GnRH

69
Q

What are 5 features of McCUne Albright syndrome?

A
  1. Precocoious puberty (excess sex steroids)
  2. Coast of main lesions
  3. bony fibromas
  4. Pigmented skin lesions
  5. Thyroid, adrenal and pituitary over secretion
70
Q

Treatment for central precocious puberty?

A

Problems coming from GnRH oversecretion so BLOCK it, leading to reduced LH and FSH.
Treatment can help avoid potential height loss
****
LUCRIN= GNRH agonist. So initially causes rise in oestrogen and testosterone production but long term use= cessation leading to final effect.

71
Q

Treatment for peripheral causes of precocious puberuty>

A

Aromatase inhibitors (stops conversion of testosterone into oestrogen)

72
Q

What are pathological causes of gynaecomastia?

A

Marijuana, hypogonadism (XXY) and sex steroid releasing tumours

73
Q

What is the definition of delayed ouberty in boys vs girls?

A

Boys 14
Girls 13

74
Q

What are causes of delayed puberty? Nb 4 categories

A

Hypothalamus: lesions interfering with GnRH
Pituitary: Craniopharyngioma, traume, SEPTO_OPTIC DYSPLASIA, Kallman syndrome
Constitutional
Gonadal: trauma, cryptorchidism, XXY, chemo

75
Q

What are the 3 characteristic features of Kallman syndrome?

A

cleft palate, anosmia and pubertal delay secondary to hypogonadotrophic hypogonadism
‘Kaali maa destroys the sense of smell’

76
Q

What gene is required to make a testes in embryogenesis?

A

SRY and Sox9

77
Q

What hormone is essential for internal vs external structures in males?

A

Dihydrotesto for external male genetalia
Testosterone for internal wolfian structures

78
Q

What is the difference between Wolfian and Mullerian strcutures?

A

Wolfian= for males.
Mullerian= for females

79
Q

What is the cardiac anomaly in Turners?

A

Bicuspid aortic valve

80
Q

What tumour can form in 46XY or 46XX with DSD?

A

Gonadoblastoma, may need gonaedtomy (oophorectomy)

81
Q

What syndrome causes complete gonadal dysgenesis in the context of male DSD?

A

Swyer syndrome

If you are not a male, you are a sewer

82
Q

What is the difference between mullerian agenesis and androgen insensitivity syndrome?

A

BOTH HAVE AMENORRHOEA but, androgen insensitivty will have testes. They responded to AMH but not to testosterone for external differentiaion

83
Q

What is the presentation of aromatase def?

A

Remember, need aromatase to convert testosterone to estradiol.
So def = ++ testosterone = ambigious female genetalia ie clitoromegaly and scrotolisation of labia

84
Q

What is the MOST important condition to rule out in presentation of a DSD?

A

CAH.

85
Q

What are the three layers of the adrenal gland? Going from out to in?

A

GFR
Glomerulosa
fasciculata
Reticularis

86
Q

What do the three layers of adrenal gland produce?

A

GFR (layers) and MSA going out to in
Minerelocorticoids
Steroids (*F steroids)
Androgens (secret so keep them inside)

87
Q

What is the main function of aldosterone?

A

INCREASE sodium reabs from urine/sweat etc
WASTE potassium and hydrogen

This is why you get hyponatraemia and hypokalemia and met acidosis in Addisons

88
Q

What is aldosterone regulated by?

A

Renin-angiotensin system

89
Q

Why is there no salt wasting in 11betahydroxylase def?

A

Still production of deoxycorticosterone which has mineralocorticoid effect

90
Q

What system regulates glucocorticoids?

A

Hypothalamic pituitary axis

91
Q

What are the main adrenal androgens?

A

DHEAS- give rise to adrenarche

Responsible also for EXTERNAL puberty features in males which is why you get it with adrenarche

92
Q

What are causes of PRIMARY adrenal insufficiency

A

Problem in adrenals so HIGH ACTH but nothing from the adrenals
CAH
Autoimmune adrenalitis
Adrenoleukodystrophy
Adrenal hypoplasia
Lysosomal/peroxisomal disorders

93
Q

What are secondary causes of adrenal insufficnecy?

A

LOW ACTH- nothing driving the adrenals to make the steroids
hypopit
hypothalamic tumours
exogenous steroid treatment

94
Q

Where is the mutation in CAH?
Thinks of CAHS

A

Chromosome 6

Think CAH-S - S for six

95
Q

What is the most common problem in CAH and what is the result?

A

21hydroxylase def so NO cortisol, NO aldosterone, HIGH progesterone–> testosterone

96
Q

Presentation of CAH

A

Newborn with FTT, hypotension, vomiting, lethargy and VIRILISATION. Males will have pigmentation of the gonads

97
Q

What is elevated in CAH (bloods wise)

A

17-OH Progesterone. Androstenedione and ACTH

98
Q

What is the presentation from atypical or late onset CAH?

A

They have the steroids but symptoms from androgen excess so irregular periods in girls and precocious puberty in boys

99
Q

What is the diagnostic test for CAH?

A

Think: they can’t produce steroids due to enzyme def SO ACTH stimulation test.
(short syancthen)
Give ACTH and measure cortisol and 17OHP at 30 and 60 mins. If 17OHP raised then diagnositc.

100
Q

Treatment for CAH?

A

Treat with high dose steroids, Fludrocort (mineralocorticoid) and salt. Monitor Renin and BP.
IF HIGH BP AND LOW RENIN, reduce fludrocort.

101
Q

What is the key feature for Addisons’ disease (Visually)

A

Hyperpigmentation

102
Q

What are the top two DDx for Addisons

A

CAH
Adenoleukodystrophy (look for long chain fatty acids- peroxismal disorder)

103
Q

Treatment for primary and secondary adrenal insufficiency?

A

Primary:corticosteroid and mineralocorticoid replacement
Secondary: only steroid def so replace that/

104
Q

When should steroids be weaned?

A

If givenf or 2 weeks.
HPA axis can take uptp 12 months to recover after high dose therapy.

105
Q

What is Cushings syndrome?

A

Anything that elevates Cortisol! ie ACTH secreting pituitary adenoma, ectopic ACTH secretion, exogenous glucocorticoids, adenocortical tumour

106
Q

Investigations for Cushings syndrome?

A

Urinary free cortisol- 3 samples
Also midnight salivary cortisol (should be low)
Dexamethasone suppression test: Give 1 mg and is suppressed cortisol in AM,not Cushings

107
Q

What is the reason for giving 1mg vs 8mg of ddexamethasone suppression test?

A

1mg for cushings
8mg to differentiate between pituitary ACTH or ectopic/adrenal cause. If ACTH, will respond to high dose steroids

108
Q

What is the testing for phaeochromocytoma?

A

plasma and urine catecholamine
(metanephrine is breakdown for catecholamine)

109
Q

What is the T4 and TSH level in sick euthyroid?

A

Low T4, normal or raised TSH

110
Q

What is pendred syndrome?

A

Congenital hypothyroidism from dysghormonogenesis. AR and SSNHL

111
Q

What is the msot common cause of congenital hypothyroidism

A

Thyroid dysgensis followed by dyshormonogenesis

112
Q

Presentation of congenital hypothyroidism

A

macrosomina, wide fontanelle, macroglossia, hoarse cry

113
Q

Common finding in ectopic thyroid?

A

Elevated TSH but low to normal T4
Ectopic uptake on nuclear medicine scan

113
Q

Common finding in ectopic thyroid?

A

Elevated TSH but low to normal T4
Ectopic uptake on nuclear medicine scan

114
Q

What is the ratio of TSH in NBST vs serum?

A

TSH in serum double that on the Guthrie

115
Q

What condition will NOT be detected on guthrie?

A

Panhypopit
Only detects elevated TSH

116
Q

What syndrome is associated with phaeo and hyperparathyroidism?

A

MENII

117
Q

What is the Dawn phenomenon?

A

Elevated BSL prior to breakfast secondary to GH ? secondary to combined effect of gluconeogenesis and glycogenolysis.
NO PRECEEDING HYPO unlike Somoyagi

118
Q

What is the Somogyi phenomenon?

A

Elevated early morning BLS due to EXAGERRATED response to hypoglycemia

119
Q

If a child had T1DM, risk of twin having it? (identical)

A

50-95%

120
Q

Diabetes risk of sibling or non-identical twin has it?

A

10%

121
Q

What is DEND syndrome?
Its an acronym with 3 things.

A

Diabetes= PERMANENT NEONATAL DIABETES
Developmental delay
Epileosy

Treat with sulfonylurea
Different to DENT!!!!!

122
Q

What syndrome causes permanent neonatal diabetes?

A

DEND syndrome

Dentist syndrome- go to dentist for teeth which are made of calcium. Lots of calcium in Dent … Have to go to dentist in first place because mouth full of sugar

123
Q

What antibody most commonly associated with T1DM?

A

GAD-65 (commonly >2yo)
IAA <2

124
Q

What are the top three associations with T1DM ?

A
  1. Coeliac
  2. Thyroid
  3. Addisons
125
Q

What does alcohol do to hepatic glucoeneogenesis?

A

Inhibits it

126
Q

What is MODY and which subtypes account for 90% of the cases?

A

‘Monogenic defect diabetes’
monogenic defect in beta cell function
MODY 2,3 and 5 account for 90% of presentation
MODY 3 i 50-65% of cases and often progressive

127
Q

Treatment for MODY

A

Sulfonulurea

Ex for MDY 5 from HNF beta that gets insulin)

128
Q

Most common deficient hormone post craniopharyngioma surgery?

A

Vasopressin, and then GH

129
Q

Where does Vitamin D2 come from?

A

DIET- fruits and vegetables.
Think you eat 2 fruit (vegetables) a day

130
Q

Where does Vitamin D3 come from?

A

MEAT and the skin

131
Q

What is required to convert pre Vit D3 to D3?

A

7 dehydrocholesterol

132
Q

What is the activation process for Vit D2 and D3? What enzymes are involved?

A

D2 and D3 go to liver- 25hydroxylase adds OH group.
And then, they go to the kidneys (PCT) where they are activated by 1a hydroxylase to form active Vit D2 and D3

133
Q

What are the calcium related functions of Vit D (activatedI

A

Osteoclastic bone resorption
Increased intestinal resorption
Inhibitir pTH secretion and increase 1a hydroxylase

134
Q

What are non calcium relation functions of Vit D (activated)

A

Decreased renin, activates B and T lyphocytes and maintain normal cell proliferation

135
Q

What is THE active form of Vit D? (the scientific form?

A

1,25-OH D3

136
Q

How is calcitriol regulated?

A

Essnetially self regulated.
If hifh, feedback to a1 hydroxylase (stops conversion into active form)

137
Q

What organ produced calcitonin

A

Thyroid

138
Q

What is the action of calcitonin?

A

STOPS breakdown of calcium, regulates calcium levels

139
Q

What are the types of Ricketts

A

There are multiple types.
Calciopenic, Phosphopenic, Vit D dependant (4 of these subtypes), and congenital hypophosphatemic rickets

140
Q

What happens to calcium and phosphate levels with high vit D vs PTH?

A

Vit D= both calcium and phos increase
PTH only ca incresse. phos low

141
Q

Action of PTH?

A

Increased bone resorption, also phosphate dumpning in the urine causing hypophosphataemia and rickets

142
Q

What is the most common cause of hypophosphataemia rickets?
(Past exam question)

A

Renal salt wasting- primary Fanconi OR increased PTH and FGF23.
FGF23 released from bones to stop vitD hydroxylation and phosphate reabs in kidney

Other cases are deitary def OR intestinal malabs from drugs with Mg/chronic diarrhoea

143
Q

What syndrome causes rickets?

A

X-linked hyphophosphtaemic rickets.
PHEX gene
X-linked DOMINANT

144
Q

What are some XRAY or bone features on presentations with Rickets?

A

Bowing of legs, ricketic rosary, widened ‘moth eaten’ growth plate

145
Q

What is measured in the blood in terms of Vit D?

A

25OHD (the one from liver, NOT from kidney)

calcidiol is the circulating form of cholecalciferol. CalciTRIOL= kidney

146
Q

What is the factor incharge of renal excretion of phosphtae?

A

Fibroblast growth factor (FGF)-23

147
Q

What is present in hypophosphatasia?

A

Alkaline phosphatase def- ALP def.
Rachitic chest, respiratory insufficiency, skeletal deformities, hypomineralisation.

148
Q

What can present with nephrocalcinosis and low ALP?

A

HYPOPHOSPHATASIA

149
Q

How do bisphosphonates work?

A

Inhibition of osteoclast activity

150
Q

Side effect of bisphosphonate?

A

hypocalcemia, osteonecrosis of the jaw

151
Q

Symptoms of hyPOcalcaemia?

A

Abdominal cramos, tetany, paresthesias

152
Q

Which ostegenesis imperfecta (1-7) is lethal?

A

Type 3

153
Q

Where is parathyroid hormone made? Half life?

A

In chief cells of the parathyroid, half life of 2 mins

154
Q

Causes of hyPOparathyroidism

A
  1. Absent parathyroid hormone or aplasia
  2. DiGeorge
  3. APECED
  4. Post thyroid surgery
    5.CHARGE
  5. haemochromatosis
  6. Wilsons disease
155
Q

What is pseudohypoparathyroidism?

A

PTH receptor defect
Low Ca, high phosphate, high PTH and SUPPRESSED calcitrioln

156
Q

What syndrome causes low PTH

A

DiGeorge

157
Q

What syndrome has hyperparathyroidism as the most common presentation?

A

MEN 1

158
Q

What syndrome causes low PTH?

A

Williams syndrome

159
Q

What syndrome causes medullary thyroid cancer?

A

MEN2A
Together, Men 2A and 2B account for 25% of medually thyroid cancers in childhood

160
Q

What type of cancer in common in MEN Type 1

A

Pancreatic, mutation in MEN 1 gene

161
Q

What syndrome presents with similar features to Prader-Willi but night blindness?

A

Bardet-Biedel
Hard to read tales of Beedle and bard. Also have reduced intellect, short stature and hypogonadism

162
Q

What is mode of inheritance for MEN syndormes?

A

AUT DOMINANT

163
Q

What hormone acts opposite to calcitonin

A

Parathyroid hormone.
Stops breakdown of bones and also reabs of calcium in kidneys

RACP Written (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions