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MBChB YR2 Endocrine > Disease Profiles: Adrenal Disorders > Flashcards

Disease Profiles: Adrenal Disorders Flashcards

1
Q

Define secondary hyperaldosteronism

A

Reduced renal blood flow leads to excess renin (and hence angiotensin II)

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2
Q

Name a side effect of ketoconazole

A

Hepatotoxic

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3
Q

Which further investigations would you perform in a patient with confirmed Cushing’s who’s serum ACTH is high?

A

Suggests ACTH-dependent disease and pituitary MRI should be planned as well as biochemical tests to distinguish between pituitary and ectopic ACTH

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4
Q

Describe the classical body habitus of a patient with Cushing’s

A

Central obesity, oedema, virilism, ‘buffalo hump’

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5
Q

Describe the histology of an adrenal adenoma

A

Composed of cells resembling adrenocortical cells

Well-differentiated, small nuclei

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6
Q

Name two causes of secondary adrenal insufficiency

A

Iatrogenic (excess exogenous steroid) - inhibits ACTH production

Pituitary disorder - tumours, surgery, radiotherapy

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7
Q

Name an endocrine feature associated with Cushing’s

A

Glycosuria/diabetes mellitus

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8
Q

What is a paraganglioma?

A

Catecholamine-secreting tumour that arises along the sympathetic chain

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9
Q

Describe the clinical features of a familial phaeochromocytoma

A

Younger presentation, more often bilateral

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10
Q

Describe the investigations of an adrenal adenoma

A

Imaging (CT, MRI)

Hormonal testing

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11
Q

How would you manage Cushing’s caused by ectopic hormone secretion?

A

Remove source

OR bilateral adrenalectomy

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12
Q

Decreased ________ as a result of primary adrenal insufficiency causes hypoglycaemia

A

Glucocorticoids

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13
Q

What is Cushing’s disease?

A

Increased free circulating cortisol caused by a functioning pituitary adenoma

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14
Q

Name three causes of secondary hyperaldosteronism

A

Obstructive renal artery disease (eg, atheroma, stenosis)

Renal vasoconstriction (as occurs in accelerated hypertension)

Oedematous disorders (e.g. heart failure, cirrhosis with ascites)

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15
Q

How would you manage an adrenocortical carcinoma?

A

Resection with adjuvant therapy (if not metastatic)

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16
Q

Name the diagnostic test for Cushing’s

A

Low dose dexamethasone suppression test (repeat to confirm)

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17
Q

Describe the management of a large and/or functioning adrenal adenoma

A

Surgical excision

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18
Q

Name 3 ACTH dependent causes of Cushing’s

A

Pituitary adenoma, ectopic ATCH (e.g. SCLC), ectopic CRH

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19
Q

Describe the classical skin features associated with Cushing’s

A

Bruising

Striae (purple or red)

Pigmentation (only occurs with ACTH-dependent causes)

Thin skin

Hirsutism

Acne

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20
Q

Where do paragangliomas usually occur?

A

In the sympathetic chain - typically occur in the head and neck but are also found in the thorax, pelvis and bladder

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21
Q

How does excess ACTH in primary adrenal insufficiency cause excess pigmentation?

A

ACTH molecule contains sequence for MSH within it

ACTH is degraded by proteases eventually exposing MSH

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22
Q

Define an adrenal crisis

A

Acute, severe glucocorticoid deficiency caused by either stress in a patient with underlying adrenal insufficiency or sudden discontinuation of glucocorticoids after prolonged glucocorticoid therapy

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23
Q

Which patient group is most likely to develop an adrenocortical carcinoma?

A

Mainly occurs in adults, equal sex incidence

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24
Q

How would you manage an adult patient with congenital adrenal hyperplasia?

A

Glucocorticoid replacement, avoiding steroid over-replacement

Control androgen excess

Restore fertility

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25
Q

Define tertiary adrenal insufficiency

A

Lack of CRH secretion by the hypothalamus

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26
Q

How would you investigate primary hyperaldosteronism?

A

Confirm aldosterone excess - plasma aldosterone: renin ratio, if raised saline suppression test

Confirm subtype e.g. adrenal CT +/- adrenal vein sampling

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27
Q

Name three options for drug treatment given to patients with Cushing’s when other treatments fail or while waiting for radiotherapy to work

A

Metyrapone, ketoconazole, pasireotide LAR

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28
Q

Describe the management of primary adrenal insufficiency

A

Hydrocortisone as cortisol replacement, fludrocortisone as aldosterone replacement, education

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29
Q

Germline mutations in neurofibroma type 1, RET (MEN2), VHL, succinate dehydrogenase enzymes and tuberous sclerosis have all been associated with the formation of ___________

A

Phaeochromocytomas

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30
Q

Where do 40% of neuroblastomas arise?

A

Adrenal medulla

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31
Q

When do signs and symptoms of primary adrenal insufficiency appear?

A

Once >90% of the gland has been destroyed

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32
Q

Describe the classical musculoskeletal features associated with Cushing’s

A

Proximal myopathy, wasting

Osteoporosis, fractures

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33
Q

Describe the usual metastatic spread of adrenocortical carcinoma

A

Usually haemogenous (liver, lung and bone)

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34
Q

Describe the classical reproductive features associated with Cushing’s

A

Oligo/amenorrhoea

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35
Q

Describe the clinical presentation of an adrenal adenoma

A

95% non-functioning - asymptomatic, incidental finding

If hyperfunctioning will present with excess hormone secretion - Cushing’s, Conn syndrome

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36
Q

Why are phaeochromocytomas sometimes referred to as the ‘10% tumour’?

A

10% extra-adrenal (paragangliomas)

10% bilateral

10% malignant (metastasis)

10% not associated with hypertension

10% familial

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37
Q

Describe the gross appearance of an adrenal adenoma

A

Well circumscribed, encapsulated lesions

Solitary, small (2 to 3 cm), bright yellow (lipid) and buried within the gland

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38
Q

What causes the varied clinical features seen in congenital adrenal hyperplasia?

A

Clinical features depend on the enzyme/pathway affected e.g. may have adrenal insufficiency with no signs of reduced aldosterone

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39
Q

Name the most common cause of primary adrenal insufficiency (Addison Disease)

A

Autoimmune adrenalitis

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40
Q

Describe the clinical presentation of an adrenocortical carcinoma

A

Hormonal effects

Abdominal mass effects

Carcinomas with necrosis can cause fever

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41
Q

Name three infectious diseases linked to the development of primary adrenal insufficiency (Addison Disease)

A

TB, CMV disease, HIV

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42
Q

Define primary hyperaldosteronism

A

Autonomous production of aldosterone independent of its regulators (angiotensin II/potassium)

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43
Q

Describe the histology of an adrenocortical carcinoma

A

Haemorrhage and necrosis

Frequent mitosis, atypical mitoses

Lack of clear cells

Capsular or vascular invasion

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44
Q

Name an mood disorder associated with Cushing’s

A

Depression/psychosis

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45
Q

Increased cortisol (Cushing’s) causes altered ______ and _____ metabolism

A

Carbohydrate and lipid metabolism

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46
Q

Describe the histology of a neuroblastoma

A

Composed of primative appearing cells but can show maturation and differentiation towards gangliod cells

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47
Q

Describe the pathophysiology of Cushing’s disease (pituitary adenoma)

A

Pituitary secretes increased ACTH → increased cortisol production by adrenal gland

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48
Q

How would you manage primary hyperaldosteronism caused by an adrenal adenoma?

A

Unilateral laproscopic adrenalectomy

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49
Q

What is a phaeochromocytoma?

A

Catecholamine-secreting tumour typically derived from chromaffin cells of the adrenal medulla

50
Q

Name 3 ACTH independent causes of Cushing’s

A

Adrenal adenoma/carcinoma, adrenal cortical nodular hyperplasia, pseudo-Cushings (severe depression, severe alcoholism)

51
Q

How would you manage a patient with a phaeochromocytoma/ paraganglioma post-surgery?

A

Long-term followup

Genetic testing and family tracing and investigation

52
Q

Adrenal enlargement in ACTH-dependent disease is usually _______

A

Diffuse

53
Q

Adrenal _______ e.g. from septicaemic infection can cause primary adrenal insufficiency (Addison Disease)

A

Haemorrhage

54
Q

Define secondary adrenal insufficiency

A

Lack of production of ACTH by the pituitary gland

55
Q

Describe the definitive management of a phaeochromocytoma/ paraganglioma

A

Lap. surgery - total excision, de-bulking if not possible

Chemotherapy if malignant, consider radio-labelled MIBG

56
Q

Describe the ‘sick day rules’ for a patient with primary adrenal insufficiency

A

Increase steroid replacement when unwell or undergoing other stress e.g. preoperative

57
Q

How would you manage Cushing’s caused by an adrenal adenoma?

A

Adrenalectomy

58
Q

Describe the pathophysiology of ACTH-independent Cushing’s

A

Autonomous over-production of cortisol by the adrenal gland due to neoplasia/nodular hyperplasia

59
Q

What is the ‘classical triad’ with reference to phaeochromocytomas?

A

Accounts for up to 90% of cases - hypertension, headache, sweating

60
Q

Name two causes of tertiary adrenal insufficiency

A

Iatrogenic (excess exogenous steroid) - inhibits CRH production

Hypothalamic disorder - tumours, surgery, radiotherapy

61
Q

Long term steroid treatment suppresses ACTH production which leads to atrophy of the adrenal cortex. This means patients need extra doses of steroid in response to ______ (e.g. illness/surgery)

A

Stress

62
Q

Amplification of N-myc and expression of telomerase predict a ___ outcome in neuroblastoma

A

Poor

63
Q

How do KCNJ5 channel mutations increase aldosterone production by an adrenal adenoma?

A

Mutations lead to loss of ion selectivity → Na+ entry and depolarisation and therefore increased aldosterone production

64
Q

Describe the signs of a phaeochromocytoma/ paraganglioma

A

Hypertension, postural hypotension

Pallor

Tachycardia, paradoxical bradycardia

Pyrexia

65
Q

Describe the pathophysiology of Cushing’s syndrome caused by ectopic ACTH

A

Carcinoma e.g. small cell lung cancer secretes ACTH → increased cortisol production by adrenal gland

66
Q

Define Conn syndrome

A

Primary hyperaldosteronism caused by an adrenal adenoma

67
Q

How would you investigate congenital adrenal hyperplasia?

A

Basal (or stimulated) 17-OH progesterone

Genetic analysis

68
Q

Define primary adrenal insufficiency (Addison Disease)

A

Decreased production of adrenocortical hormones due to destruction of the entire adrenal cortex, most commonly by autoimmune adrenalitis

69
Q

Describe the clinical presentation of an adrenal crisis

A

Vomiting

Abdominal pain

Hypotension

Shock

70
Q

Describe the management of a small, non-functioning adrenal adenoma

A

Leave in situ

71
Q

What is the most common cause of Cushing’s syndrome?

A

Therapeutic administration of synthetic steroids (iatrogenic)

72
Q

Adrenal enlargement in ACTH-independent disease is usually _______

A

Nodular

73
Q

Define adrenocortical carcinoma

A

Very rare malignancy of the adrenal cortex

74
Q

Somatic mutations of the potassium channel KCNJ5 in the region of the selectivity filter have been found in a significant number of aldosterone-producing _______ _______

A

Adrenal adenomas

75
Q

Describe the symptoms of a phaeochromocytoma/ paraganglioma

A

Paroxysmal sweating, headache, pallor, tachycardia, anxiety

Weight loss

Paraganglioma of the bladder associated with micturition during episodes

76
Q

Describe the clinical presentation of non-classic congenital adrenal hyperplasia (partial 21⍺-hydroxylase deficiency)

A

Presents later (adolescence/adulthood)

Precocious puberty

Hirsutism

Acne

Oligomenorrhoea, infertility or sub-fertility

77
Q

Describe the pre-operative management of a phaeochromocytoma/ paraganglioma

A

Full ⍺-blockade (phenoxybenzamine), when stable full β-blockade (propranolol, atenolol or metoprolol)

Fluid and/or blood replacement

Anaethetic assessment

78
Q

How would you manage a paediatric patient with congenital adrenal hyperplasia?

A

Glucocorticoid replacement

Mineralocorticoid replacement in some

Surgical correction

Aim to achieve maximal growth

79
Q

Describe the pathophysiology of Cushing’s syndrome caused by ectopic CRH

A

Carcinoma e.g. medullary thyroid carcinoma secretes CRH → increased ACTH buy pituitary → increased cortisol by adrenal gland

80
Q

How would you investigate a patient with suspected Cushing’s?

A
  1. Establish cortisol excess
  2. Low dose dexamethasone suppression test (diagnostic)
  3. Establish cause
81
Q

Familial phaeochromocytomas are more commonly malignant if they are associated with germline mutation of B unit of ________ ________

A

Succinade dehydroxinate

82
Q

What is the only definite criterion for adrenocortical carcinoma (vs benign lesion)?

A

Metastasis

83
Q

Decreased ________ as a result of primary adrenal insufficiency causes hyperkalaemia, hyponatraemia, volume depletion and hypertension due to K+ retention and Na+ loss

A

Mineralocorticoids

84
Q

Define adrenal adenoma

A

Benign neoplasm emerging from the cells of the adrenal cortex

85
Q

Describe some complications of phaeochromocytoma/ paraganglioma

A

Cardiac failure, infarction, arrhythmias

CVA

Paralytic ileus of bowel

86
Q

Describe the classic facial features of a patient with Cushing’s

A

Plethora (redness of the face)

Moon face

87
Q

Describe the clinical presentation of primary hyperaldosteronism

A

Significant hypertension

Hypokalaemia (~30%)

Alkalosis

88
Q

Name a side effect of metyrapone

A

Nausea and vomiting

89
Q

Describe the management of secondary/tertiary adrenal insufficiency

A

Treat with hydrocortisone replacement (fludrocortisone unnecessary)

90
Q

Describe the clinical presentation of classic congenital adrenal hyperplasia

A

Presents at birth or shortly after

Genital ambiguity (virilisation) in females

Adrenal failure - collapse, hypotension, hypoglycaemia, poor weight gain (biochemical pattern of Addison’s disease)

91
Q

What is Cushing’s syndrome?

A

Increased free circulating glucocorticoid

92
Q

Name 4 causes of primary hyperaldosteronism

A

Adrenal adenoma (Conn’s syndrome)

Bilateral adrenal hyperplasia (idiopathic)

Genetic mutations

Unilateral hyperplasia

93
Q

Describe the gross appearance of a phaeochromocytoma

A

Range from small to large necrotic tumour masses, average 100g

May see adrenal remnants on the surface

Yellow, red/brown to haemorrhagic and necrotic

94
Q

Describe the clinical presentation of secondary/tertiary adrenal insufficiency

A

Similar to Addison’s: weakness, fatigue, anorexia, N+V, weight loss, diarrhoea, dizziness and low BP, abdominal pain

Differences:

  • Skin pale (no ↑ ACTH)
  • Aldosterone production intact (hypertension)
95
Q

How would you investigate a patient with suspected primary adrenal insufficiency?

A

Adrenal autoantibodies

↓ Na+, ↑ K+, may be hypoglycaemia

Short synacthen test

↑ ACTH

↑↑ renin, ↓ decreased aldosterone

96
Q

Malignant phaeochromocytomas have a propensity for which type of metastatic spread?

A

Propensity for skeletal metastasis

97
Q

Which patient group is most likely to develop an adrenal adenoma?

A

Found in almost all age groups but increase in frequency with age

98
Q

Which further investigations would you perform in a patient with confirmed Cushing’s who’s serum ACTH is low?

A

Suggests non-ACTH-dependent disease - adrenal imaging should be planned (CT or MRI)

99
Q

Why will K2Cr2O7 turn a phaeochromocytoma dark brown?

A

Oxidation of catecholamines in tumour cells

100
Q

Name the commonest secondary cause of hypertension

A

Primary hyperaldosteronism

101
Q

Adrenocortical carcinoma in younger patients can be associated with __-_______ _______

A

Li-Fraumeni syndrome

102
Q

What is zellballen?

A

Describes the nest-like cellular arrangement of the tumour cell in phaeochromocytomas/ paragangliomas

103
Q

Autoimmune adrenalitis is associated with other ______ _______ e.g. T1DM

A

Autoimmune diseases

104
Q

Which skin feature of Cushing’s only occurs with ACTH-dependent causes?

A

Pigmentation

105
Q

Describe the pathophysiology of congenital adrenal hyperplasia

A

21⍺-hydroxylase deficiency prevents the production of aldosterone and cortisol

There will be increased precursors diverted into androgen pathway → increased testosterone and dihydrotestosterone

Reduced cortisol stimulates ACTH release and cortical hyperplasia

106
Q

Name the mutation responsible for 90% of cases of congenital adrenal hyperplasia

A

Autosomal recessive 21⍺-hydroxylase deficiency

107
Q

Name the most common drug treatment given to patients with Cushing’s when other treatments fail or while waiting for radiotherapy to work

A

Metyrapone

108
Q

Hyper______ and mild hyper______ is often seen in patients with a phaeochromocytoma/ paraganglioma

A

Hyperglycaemia, mild hypercalcaemia

109
Q

Name three methods of establishing cortisol excess in suspected Cushing’s

A

Overnight 1mg dexamethasone suppression test (oral)

24hr urine free cortisol (24hr urine collection)

Diurnal cortisol variation (midnight/8am)

110
Q

List some features of Cushing’s that help to differentiate between Cushing’s and obesity

A

Thin skin

Proximal myopathy

Frontal balding in women

Conjunctival oedema (chemosis)

Osteoporosis

111
Q

Define congenital adrenal hyperplasia

A

Inherited group of disorders characterised by a deficiency in one of the enzymes necessary for cortisol synthesis

112
Q

Define neuroblastoma

A

Malignant neuroendocrine tumour of the sympathetic nervous system that originates from neural crest cells

113
Q

How would you manage Cushing’s caused by a pituitary adenoma?

A

Hypophysectomy (transsphenoidal route)

External radiotherapy if recurs

Last line: bilateral adrenalectomy

114
Q

Where do 60% of neuroblastomas arise?

A

Sympathetic chain

115
Q

How would you manage primary hyperaldosteronism caused by bilateral adrenal hyperplasia?

A

Mineralocorticoid receptor antagonists - spironolactone or eplerenone

116
Q

When are neuroblastomas usually diagnosed?

A

18 months, 40% diagnosed in infancy

117
Q

Describe the management of an adrenal crisis

A

Rehydration with NaCL, hydrocortisone, manage underlying cause/precipitant

118
Q

How would you investigate a patient with suspected adrenocortical carcinoma?

A

Imaging - CT, MRI

Biopsy

119
Q

Describe the clinical presentation of primary adrenal insufficiency (Addison’s disease)

A

Weakness, fatigue, anorexia, N+V, weight loss, diarrhoea, dizziness and low BP, abdominal pain

Skin pigmentation - look ‘tanned’, as well as black spots in buccal mucosa, dark palmar creases and dark finger spaces

120
Q

How would you investigate a phaeochromocytoma/ paraganglioma?

A

2 x 24 hr catecholamines or metanephrines

Plasma metanephrines, ideally at time of symptoms

Imaging - MRI, MIBG, PET scan

121
Q

If you identify cranial diabetes insipidus in a patient through a water deprivation test, what should your next investigation be?

A

CT scan or MRI of the head should be conducted to rule out brain tumours (especially craniopharyngioma)

MBChB YR2 Endocrine (23 decks)

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