General endocrine disease Flashcards
(111 cards)
1
Q
what is cushing’s syndrome?
A
signs + symptoms associated with prolonged exposure to high levels of cortisol
2
Q
what could you get with prolonged exposure to high levels of cortisol?
A
cushing’s syndrome
3
Q
what is cushing’s disease?
A
cause of syndrome by a pituitary tumour that inc secretion of ACTH therefore inc cortisol
4
Q
what could you suffer from if you had a pituitary tumour tat resulted in an inc level of serum ACTH?
A
cushing’s disease
5
Q
what are the 4 causes of cushing’s syndrome?1
A
1 - iatrogenic - drugs
2 - pituitary tumour - releases ACTH therefore in cortisol
3 - adrenal tumour - inc cortisol (ACTH independent)
4 - ectopic tumour that secretes ACTH
6
Q
what can happen to your skin with inc ACTH?
A
pigmentation
7
Q
what are the features of cushing’s syndrome?
A
weight gain pigmentation HTN stretch marks hirsuitism diabetes problems with periods bruising
8
Q
how would you investigate cushing’s?
A
9am cortisol after midnight dexamethasone
9am ACTH
scan for pituitary/adrenal tumours
9
Q
what is congenital adrenal hyperplasia?
A
problem with the enzymes involved in cortisol production
causes either too much or too little cortisol
10
Q
what are the 2 causes of CAH?
A
deficiency of 21-hydroxylase
autosomal dominant
11
Q
what does 21-hydroxylase do?
A
enzyme in the steps to creating cortisol
converts 17 alpha-OH-progesterone into deoxycortisol
12
Q
when is CAH noticed in patients?
A
21-hydroxylase deficiency = late on set
autosomal dom = seen as they develop
13
Q
what are the features of CAH?
A
sexual ambiguity short salt wsting HTN hirsuitism irregular periods hermaphroditism
14
Q
how would you investigate CAH?
A
LH, FSH, testosterone, DHEAs
17 alpha-OH-progesterone before and after synacthen
15
Q
what is addison’s disease?
A
hypoadrenalism
insufficient steroid hormones
16
Q
what disease would you expect to see with hypoadrenalism/insufficient steroid hormones?
A
addison’s disease
17
Q
what are 1ry and 2ry insufficiencies caused by in addison’s?
A
1ry - adrenal glands unable to produce sufficient steroids
2ry - insufficient pituitary or hypothalmic stimulation of adrenal glands
18
Q
what are the key features of addison’s disease?
A
fatigue anorexia weight loss skin pigmentation postural hypotension
19
Q
what can be the cause of endocrine hypertension?
A
conn’s syndrome
20
Q
what is conn’s syndrome?
A
endocrine hypertension
21
Q
what is the cause of conn’s syndrome?
A
either hyperplasia or adenoma of the adrenal gland which releases aldosterone that decreases renin
22
Q
what is a phaeochromocytoma?
A
tumour that secretes noradrenaline++ and adrenaline
23
Q
where would you find a phaeochromocytoma?
A
90% adrenal medulla
10% extra-adrenal
24
Q
what symptoms would you expect with a phaeochromocytoma?
A
headaches sweating palpitations PMH of poorly controlled HTN sinus tachycardia
25
how would you treat a phaeochromocytoma?
alpha + beta blockers
| surgery
26
what causes hypercalcaemia in a healthy person?
```
1ry hyperparathyroidism
drugs - thiaziades, lithium
food containing vit d
milk-alkali syndrome
adrenal insufficiency
immobilisation
```
27
what causes hypercalcaemia in a sick person?
malignancy
| granulomatous disease
28
what effect on serum Ca2+ and PO4 does PTH have?
inc Ca2+
| dec PO4
29
what effect on urine Ca2+ and PO4 does PTH have?
inc both
30
what are the 3 types of hyperparathyroidism?
1ry
2ry
3ry
31
what happens in 1ry hyperparathyroidism?
excess PTH beuase of:
tumour (usually adenoma)
hyperplasia
32
what happens in 2ry hyperparathyroidism?
low Ca2+ for any reason causes excessive secretion of PTH
33
what happens in 3ry hyperparathyroidism?
autonomous secretion of PTH following chronic hypocalcaemia
34
how would you expect to diagnose 1ry hyperparathyroidism?
screening - usually asymptomatic
35
what symptoms could you get with 1ry hyperparathyroidism?
ass. with high serum Ca2+ - renal stones, fractures, corneal calcifications
stones, moans, thrones, psychiatric overtones
bradycardia, heartblock
36
how can malignancy cause malignant hypercalcaemia?
malignancy results in inc osteoclast bone resorption
37
what are the 3 types of hypoparathyroidism?
hypoparathyroidism
pseudohypoparathyroidism
pseudopseudohypoparathyroidism
38
what are the causes of hypoparathyroidism?
```
post-surgical/radioactive iodine/chemo
poly-endocrne deficiency syndrome
idiopathic
hypomagnesaemia
mets
haemochromatosis
di george syndrome
biologically inactive PTH
```
39
what biochemistry would you expect with hypoparathyroidism?
Ca2+
PO4
PTH
Ca2+ - dec
PO4 - inc
PTH - dec
40
what does hypomagnesaemia cause?
dec PTH
PTH resistance
dec Ca2+ and K+
therefore hypoparathyroidism
41
what is pseudohypoparathyroidism?
resistance to PTH
42
what causes pseudohypoparathyroidism?
deficient protein G subunit
43
what is pseudopseudohypoparathyroidism?
inherited disorder
| phenotype of pseudohypoparathyroidism but without the biochemistry
44
what is Albright’s hereditary osteodystrophy?
condition related to pseudohypoparathyroidism
45
what are the symptoms of Albright’s hereditary osteodystrophy?
```
PTH resistance
short, obese
round face
short 4th metacarpal
subcutaneous calcifications
```
46
what is primary male hypogonadism and what biochemistry would you expect?
problem with the testis
dec testosterone
inc FSH, LH
47
what is secondary male hypogonadism and what biochemistry would you expect?
problem with FSH + LH secretion
dec testosterone
dec FSH, LH
48
what could cause 1ry hypogonadism in men?
```
kleinfelter's
orchitis
drugs
alcohol
chemo/radio
chronic kidney or liver disease
aging
androgen resistance
```
49
what could cause 2ry hypogonadism in men?
```
delayed puberty
cushings
drugs
OPIATES
anabolic steroids
chronic kidney + liver disease
HIV
DM
aging
obesity
hypopituitarism/prolacinaemia
kallman's
```
50
what happens if male androgenism deficiency is in a foetus?
normal/almost normal female
51
what happens if male androgenism deficiency is in puberty?
eunuchoid
| no pubic hair - inc face
52
what happens if male androgenism deficiency is in an adult?
```
small or absent testis
gynaecomastia
infertility/sexual dysfunction
dec hair growth
skin wrinkling
flushes
small prostate
osteoperosis
```
53
which syndrome is associated with 1ry male hypogonadism?
kleinfelter's
54
which syndrome is associated with 2ry male hypogonadism?
kallman's
55
what are the 3 main causes of gynaecomastia?
deficient testosterone
inc osetrogen
drug induced
56
what is the most common cause of male foetal androgen deficiency?
failure of testosterone conversion
| insufficiency/deficiency to 5-alpha-reductase
57
what is secreted from the hypothalamus that activated FSH and LH secretion?
gonadotrophin releasing hormone (GnRH)
58
which cells produce testosterone?
leydig cells in the presence of LH
59
which cells nourish and develop sperm?
sertoli cells in the presence of FSH
60
what are the gonadotropins?
LH + FSH
61
what are the 2 types of precocious puberty?
central
| pseudo
62
which of the precocious puberties is gonadotropin-dependent and which is independent?
gonadotropin dependent = central pp
| gonadotropin independent = pseudo pp
63
what is the mechanism of central precocious puberty?
premature activation of the hypothalmic-pituitary-gonadal axis
64
what are the causes of central precocious puberty?
idiopathic
tumours
hypothyroidism
65
what is the mechanism of pseudo precocious puberty?
gonads develop independent of GnRH
66
what are the causes of pseudo precocious puberty?
adrenal + gonadal disease
| hCG secreting tumours
67
how would someone with premature ovarian failure present?
```
secondary amenorrhoea
vaginal dryness
menopausal flushes
normal 2ry sexual characteristics
high serum FSH
```
68
what can cause premature ovarian failure?
```
idiopathic
familial
turner's
fragile x
poly-endocrine deficiency syndromes
chemo/radio
mumps
```
69
what can cause primary amenorrhea?
1 - hypergonadotropic hypogonadism - primary ovarian failure
2 - hypogonadotropic hypogonadism - hypothalmic or pituitary failure
3 - excess steroid hormone production - CAH, tumours
70
what can cause secondary amenorrhea?
1 - hypothalmic/pituitary disease
2 - pregnancy
3 - prolactinoma - non-cancerous swelling of the pituitary
71
what are the symptoms of turner's at birth?
```
short
lymphoedema
webbed short neck
cubitus valgus
wide nipples
pigmented naevi
short 4th metacarpal
```
72
how would you detect turner's later in life?
absent 2ry sexual characteristics
primary amenorrhoea
growth failure
73
what can cause androgen excess in females?
PCOS
adrenal or ovarian tumour
non-classical CAH
74
what are the signs of androgen excess in women?
hirsuitism
temporal balding
clitoromegaly
75
A 66-year-old woman with haemoptysis, weight loss and hypokalaemia. Her serum cortisol concentrations are high following a high-dose dexamethasone suppression test.
Cushing’s syndrome due to ectopic ACTH
why? lung cancer secreting ACTH
76
A 16-year-old woman with primary amenorrhoea, hirsutism and some signs of virilisation, with raised 17-hydroxyprogesterone concentrations following a synacthen test.
CAH
why? age, inc steroid hormones, 1ry amenorrhoea
77
A 34-year-old woman presenting with a history of infertility and oligomenorrhoea. On examination, she is overweight with mild hirsutism and no other clinical signs. Her serum LH/FSH ratio is raised, serum cortisol is normal and her serum testosterone is at the upper limit of the female reference range.
PCOS
why? age, Hx infertility + period probs, hirsuit, high steroid hormones
78
A 38-year-old woman who presents with pigmentation and secondary amenorrhoea, and who has raised ACTH and low serum cortisol on investigation.
Addison's disease
why? high ACTH, insufficient steroid hormone, 2ry amenorrhoea due to anorexia?
79
A 42-year-old woman, previously well and on no medication, who drinks 20 units of alcohol per week. She gives a 12 month history of easy bruising, difficulty getting up from a sitting position, weight gain and mild hirsutism. Her serum cortisol is raised following a short dexamethasone suppression test.
Cushing’s disease (pituitary adenoma)
why?
80
A 60 year lady is referred with a corrected
serum calcium of 1.85 mmol/l (2.15-2.60). On
examination she has a neck scar.
1. What is the likely diagnosis?
2. List initial investigations
3. What drug might be administered
1 - post-operative primary hypoparathyroidism
2 - serum Ca2+, PTH
3 - oral 1 alpha-hydroxycholecalciferol
81
80 year old lady complains of significant weight
loss, poor appetite, general malaise, and
increased skin pigmentation. Her GP has noted
significant hypokalaemia
1. What is the likely diagnosis?
2. Describe initial investigations
1. Cushing’s Syndrome/ectopic
ACTH secretion
2. Urea and electrolytes, cortisol,
glucose, chest x-ray
82
Female infant with extremely short stature, a renal abnormality and a systolic murmur:
1. What physical sign can you see in lower extremities?
2. Name possible diagnosis
3. List five associated endocrine and
metabolic defects
1. Lymphoedema
2. Turner’s Syndrome
3. Growth failure
Primary amenorrhoea
Hypothyroidism
Type 2 diabetes
Obesity
83
```
A 55 year old man presents with
hypocalcaemia and hypokalaemia. He is on
medication for dyspepsia.
1. What is the likely underlying cause?
2. What drug is he taking?
3. Describe initial investigations
```
1. Hypomagnesaemia (induced by PPIs)
2. Protein pump inhibitor:
Omeprazole, Lansoprazole,
Pantoprazole
3. Serum magnesium, calcium, PTH
and potassium
84
21 year old lady with primary amenorrhoea,
scanty body hair and a past history of bilateral
inguinal hernia repairs.
1. Name probable diagnosis
2. List initial investigations
1. Complete Androgen
Insensitivity Syndrome
2. Chromosomal analysis, LH,
FSH and testosterone
85
A 62 year old lady with a history of renal stones is
referred to the Orthopaedic Surgeons with bone pain.
Chest x-ray reveals a clavicular fracture.
1. What would an x-ray show?
2. What is the diagnosis?
3. List initial investigations
1. Sub-periosteal erosions
2. Primary hyperparathyroidism
3. Serum calcium, phosphate,
alkaline phosphatase and PTH
86
20 year old man whose arm span exceeds his
height by 5 cm is concerned over his lack of
maturity
1. What previous surgery could he have had on his chest?
2. What is the likely diagnosis?
3. List initial investigations
1. Mammoplasty
2. Pre-pubertal androgen deficiency –
Klinefelter’s Syndrome
3. Chromosomal analysis, LH, FSH
and testosterone levels
87
```
45 year old lady feels generally unwell with poor appetite and weight loss of 6 kg. Her GP
has noticed mild hyperkalaemia.
1. What are the physical signs?
2. What is the diagnosis?
3. Describe initial investigations
```
```
1. Vitiligo and increased skin
pigmentation
2. Addison’s disease
3. Urea and electrolytes, cortisol,
ACTH, glucose and Synacthen test
```
88
```
78 year old man with a corrected serum calcium of 3.8 mmol/l (2.15-2.60) is admitted confused and dehyrated following a brief
history of nausea and vomiting
1. What is the likely diagnosis?
2. Describe initial investigations
3. Describe initial management
```
1. Malignant hypercalcaemia
2. Repeat corrected serum
calcium, urea and
electrolytes and chest x-ray
3. Normal saline infusion and
i.v. Pamidronate
89
18 year old lady presents with primary amenorrhoea, significant hirsuitism and cliteromegaly
1. What is the likely diagnosis?
2. Describe initial investigations
3. Describe initial drug therapy
1. Non-classical Congenital Adrenal Hyperplasia
2. FSH, LH, testosterone, 17 α-
hydroxyprogesterone, Synacthen test
3. Dexamethasone, oral oestrogen, Cyproterone Acetate
90
```
58 year old man taking opiod analgesics for joint pains complains of loss of libido. His GP
has found low testosterone levels.
1. What is the likely cause of his
symptoms?
2. Describe initial investigations
3. Describe initial management
```
1. Drug induced hypogonadism
2. LH, FSH, testosterone, prolactin
3. Drug withdrawal
91
```
65 year old lady from Bangladesh complains of bone tenderness and difficulty getting out of a chair. Her GP has noted a corrected serum calcium of 1.95 mmol/l (2.15-2.60), phosphate 0.6 mmol/l (0.8-1.5) and alkaline
phosphatase 140 i.u./l (40-129)
1. What is the likely diagnosis?
2. Describe initial investigations
3. Describe initial management
```
1. Osteomalacia
2. Repeat corrected serum calcium,
phosphate, alkalkine
phosphatase, PTH and 25
hydroxy cholecalciferol
3. Ergocalciferol
92
55 year old hypertensive man is noted to have an adrenal “incidentaloma” while being investigated for probable Irritable Bowel Syndrome. He is not on drug therapy, although hypertensive, and his GP has noted persistent hypokalaemia
1. What is the likely diagnosis?
2. Describe initial investigations
1. Conn’s Syndrome
2. Repeat urea and electrolytes,
rennin, aldosterone and 24hr
urinary urea and electrolytes
93
when investigating cushing's disease (excess cortisol), what can a high dose 9am cortisol/midnight dexamethasone differentiate between?
an ectopic and a pituitary tumour
94
when investigating cushing's syndrome, what can ACTH levels differentiate between?
ectopic, adrenal or pituitary tumours
95
following ACTH and low/high dose 9am cortisol following midnight dexamethasone tests, what results would you get for ectopic, adrenal and pituitary tumours?
Cushing syndrome caused by an adrenal tumor:
Low-dose test: no change (n = low)
ACTH level: low, as adrenal tumours are ACTH independent (n = low)
In most cases, the high-dose test is not needed
Cushing syndrome related to an ectopic ACTH-producing tumor:
Low-dose test: no change
ACTH level: high
High-dose test: no change (n= low)
Cushing syndrome caused by a pituitary tumor (Cushing disease)
Low-dose test: no change
ACTH level: normal/elevated
High-dose test: normal suppression
96
what's the theory behind 9am cortisol following midnight dexamethasone tests?
The low-dose test can help tell whether your body is producing too much ACTH. The high-dose test can help determine whether the problem is in the pituitary gland (Cushing disease).
Dexamethasone is a man-made (synthetic) steroid that is similar to cortisol. It reduces ACTH release in normal people. Therefore, taking dexamethasone should reduce ACTH level and lead to a decreased cortisol level.
If your pituitary gland produces too much ACTH, you will have an abnormal response to the low-dose test. But you can have a normal response to the high-dose test.
97
which of the causes of cushing's syndrome is ACTH independent?
adrenal tumour - releases cortisol, not ACTH
98
what would you use to block cortisol synthesis?
metyaprone
99
after taking which drug would you test the hormones in CAH?
synacthen
100
how would you medically treat CAH?
dexamethasone - causes hirsutism
cyproterone + oestrogen
fludrocortisone + hydrocortisone (salt wasters)
101
what are the causes of addisons disease?
```
AI
TB
adrenal infiltration/infarction
tumours
haemochromotosis
bilateral adrenalectomy
AIDS
```
102
how would you medically treat addisons?
dexamethasone - before results
| hydrocortisone + fludrocortisone
103
how would you investigate addisons?
synacthen - inadequate cortisol response
| ACTH = raised
104
what would conn's look like biochemically?
| renin/aldosterone
low renin
| high aldosterone
105
what is the chevostek sign?
abnormal reaction to the stimulation of the facial nerve with hypocalcaemia
106
what is trousseau sign?
seen in hypocalcaemia
| spasm of forearm muscles with raised BP in a cuff
107
what can hypocalcaemia do to the QT interval?
prolong it
108
what effect on PTH, Ca and K does hypomagnesaemia have?
decreases them all
109
how could you medically treat turners?
oestrogen
thyroxine
GH
diabetic agents
110
how could you medically treat female androgen excess?
cyproterone acetate - synthetic steroidal antiandrogen
| oestrogen
111
what happens to insulin in PCOS?
inc as resistant
