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Year 2 Clinical Pathology > 3.1 Diseases of the Endocrine System > Flashcards

3.1 Diseases of the Endocrine System Flashcards

1
Q

The pituitary gland is made up of what 2 lobes, what are the relative proportions of each?

A

Anterior lobe = 75%

Posterior love = 25%

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2
Q

Give the 5 causes of pituitary gland hypofunction?

A

1) Tumours - non secretory adenoma, metastatic carcinoma
2) Trauma
3) Infarction
4) Inflammation - granulomatous, autoimmune, other infections
5) Iatrogenic

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3
Q

The vast majority of primary pituitary tumours are of what type?

A

Benign adenomas (can be derived from any hormone producing cell)

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4
Q

What are the 2 main effects of pituitary tumours?

A

1) If functional the clinical effect secondary to the hormone being produced
2) Local effects due to pressure on optic chiasm or adjacent pituitary

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5
Q

Give the 3 commonest types of pituitary adenoma and what each causes?

A

1) Prolactinoma - commonest, galactorrhea and menstrual disturbance
2) Growth hormone secreting - gigantism in children and acromegaly in adults
3) ACTH secreting - Cushing’s disease

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6
Q

The thyroid gland is made up of 2 parts, how does each part get to its position embryologically?

A

1) Main part migrates from foregut to anterior neck

2) Ultimobranchial body forms in brachial arches and fuses with main bit laterally

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7
Q

Does ectopic thyroid just exist in the head and neck region?

A

No can exist in the larynx, trachea, heart, pericardium, liver, gall bladder and as far as vagina

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8
Q

What is the most common ectopic thyroid?

A

Lingual thyroid: at the base of the tongue

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9
Q

What percentage of patients with lingual thyroid have no other thyroid tissue?

A

> 75%

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10
Q

What is cretinism?

A

Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones

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11
Q

What percentage of patients with lingual thyroid are hypothyroid and what percentage have cretinism?

A

70% hypothyroid

10% cretinism

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12
Q

What is a thyroglossal duct cyst?

A

A persistent track representing the embryological migratory path of thyroid anlage in the anterior neck

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13
Q

Where do 75% of thyroglossal duct cysts occur?

A

In the anterior midline of the neck or immediately below the hyoid bone

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14
Q

Do symptoms occur with a thyroglossal duct cyst?

A

No - its an asymptomatic midline neck mass

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15
Q

In which group is a thyroglossal duct cyst most common?

A

Children and young adults

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16
Q

What procedure can be used to remove a thyroglossal duct cyst?

A

Sistrunk procedure

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17
Q

What is acute thyroiditis?

A

Acute inflammation of the thyroid parenchyma associated with local viral, bacterial or fungal infection

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18
Q

What are most cases of acute thyroiditis due to?

A

Generalised sepsis

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19
Q

What are the 5 symptoms of acute thyroiditis?

A

1) Fever
2) Chills
3) Malaise
4) Pain
5) Swelling of anterior neck

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20
Q

What is the prognosis of acute thyroiditis?

A

Related to the underlying condition

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21
Q

What is palpation thyroiditis and what is it often associated with?

A

Microscopic granulomatous foci centered on thyroid follicles, secondary to rupture of follicles due to palpation or surgery
Patients almost always have a thyroid nodule

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22
Q

What is Riedel thyroiditis?

A

Rare, fibrosing form of chronic thyroiditis which may alos affect lots of other structures

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23
Q

How does Riedel thyroiditis present, what are the 3 main symptoms?

A

Presents with a firm goitre
Symptoms = dysphagia, hoarseness and stridor
(May be mistaken for malignant neoplasm)

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24
Q

Does Riedel’s thyroiditis require treatment?

A

No - it is a benign self-limiting disease

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25
Q

What is Chronic lymphocytic thyroiditis also known as?

A

Hashimoto’s thyroiditis

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26
Q

What is Hashimoto’s thyroiditis?

A

Autoimmune chronic inflammatory disorder with diffuse enlargement and raised serum thyroid antibodies, get lymphocytic infiltration of the thyroid parenchyma, often with germinal center formation

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27
Q

Hashimotos thyroiditis occurs most commonly in which group?

A

Females at age of 59

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28
Q

Is Hashimoto’s thyroiditis associated with hypo or hyper thyroidism?

A

Hypothyroidism

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29
Q

Hashimoto’s thyroiditis increases the risk of what 2 conditions?

A

80 fold increased risk of thyroid lymphoma

Increased risk of papillary carcinoma of the thyroid

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30
Q

What is diffuse hyperplasia of the thyroid also known as?

A

Grave’s disease

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31
Q

What is the most common cause of hyperthyroidism?

A

Grave’s disease (80% of cases)

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32
Q

What are the thyroid hormone levels in Graves disease?

A

T3 and T4 elevated, TSH markedly suppressed

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33
Q

What are the 5 physical findings in Grave’s disease?

A

1) Pretibial myxoedema
2) Hair loss
3) Wide eyed stare or proptosis
4) Tachycardia
5) Hyperreactive reflexes

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34
Q

What is a multinodular goitre?

A

Enlargement of the thyroid with varying degrees of nodularity -1 or more thyroid nodules

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35
Q

Do patients with a multinodular goitre tend to get changes to their thyroid levels?

A

No - most are euthyroid

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36
Q

What 2 symptoms may develop with large nodules in a multinodular goitre?

A

Tracheal compression

Dysphagia

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37
Q

What is a follicular adenoma of the thyroid?

A

Benign encapsulated tumour with evidence of follicular differentiation, a solitary nodule only involving one lobe

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38
Q

How does follicular adenoma present, which sex is it most common in?

A

Painless neck mass, often present for years

Females more than males

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39
Q

Give the 4 most common malignant tumours of the thyroid?

A

1) Differentiated thyroid carcinoma
2) Medullar carcinoma
3) Anaplastic carcinoma
4) Malignant lymphoma

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40
Q

What is the commonest type of thyroid carcinoma, which sex it most common in?

A

Papillary carcinoma, most common in females

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41
Q

What are the 5 main risk factors for developing a papillary carcinoma?

A

1) Familial, autosomal dominant non medullary thyroid carcinoma
2) FAB
3) Cowden’s syndrome
4) Therapeutic irradiation
5) Radiation exposure

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42
Q

In addition to the variety of chromosomal translocations in papillary carcinoma, what are the 4 most common molecular abnormalities?

A

1) Activation of RET or NTRK1
2) Fusion of RET tyrosine kinase regions with constitutively expressed thyroid proteins
3) BRAF V600E mutation
4) RAS mutations

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43
Q

What is the macroscopic appearance of a papillary carcinoma of the thyroid?

A

Ill defined, infiltrative, some encapsulated, may be cystic, granular

44
Q

Follicular neoplasms can also occur in the thyroid, give the 4 common follicular neoplasms?

A

1) Follicular adenoma
2) Minimally invasive follicular carcinoma
3) Widely invasive follicular carcinoma
4) Hurthle cell neoplasms

45
Q

Follicular carcinoma accounts for what percentage of all thyroid cancers?

A

10-20%

46
Q

How does follicular carcinoma present?

A

90% present with a solitary nodule in the thyroid

10% present with distant metastasis

47
Q

Hurthle cell carcinoma accounts for what percentage of all differentiated thyroid carcinomas?

A

3%

48
Q

How does Hurthle cell carcinoma behave differently clinically to follicular carcinoma?

A

Unlike follicular carcinoma there is a significant incidence of cervical lymph node metastases

49
Q

What are the commonest haematogenous sights of spread of Hurthle cell carcinoma?

A

Bone, liver and lung

50
Q

Insular carcinoma occurs in what groups of patients and has what prognosis?

A

Occurs in elderly patients, poor prognosis as often locally advanced, lymph node and distant metastases present in up to 50% - atleast 60% of patients will die of the disease

51
Q

How does an anaplastic carcinoma of the thyroid present?

A

Rapidly enlarged thyroid mass which may be preceeded by a history of long standing goitre

52
Q

What is the prognosis of anaplastic carcinoma of the thyroid gland?

A

Usually inoperable with a median survival in months

53
Q

What is a medullary carcinoma of the thyroid?

A

Malignant tumour showing differentiation to parafollicular C cells

54
Q

Is medullary carcinoma of the thyroid inherited?

A

70-80% are sporadic but 20-30% are autosomal dominant inherited

55
Q

Which 3 common mutations are found in medullary carcinoma?

A

1) Men 2a & 2b
2) Familial MTC
3) Mutations in the RET gene

56
Q

What is a primary thyroid lymphoma and what is it often associated with?

A

Primary lymphoma arising within the thyroid gland, often associated with lymphocytic thyroiditis.

57
Q

What are the 2 types of primary thyroid lymphoma?

A

1) Extranodal marginal zone type

2) Diffuse large B cell

58
Q

Primary thyroid lymphoma accounts for what percentage of thyroid neoplasms?

A

2%

59
Q

What is the mean age of incidence of primary thyroid lymphoma?

A

Seventh decade

60
Q

How does a primary thyroid lymphoma present? 5

A

1) Mass in thyroid
2) Often associated with rapid enlargement
3) Pain
4) Dysphagia
5) May have associated cervical lymphadenopathy

61
Q

What is the overall percentage survival of primary thyroid lymphoma?

A

60%

62
Q

What are the 5 common metastatic tumours of the thyroid?

A

1) Renal cell carcinoma
2) Melanoma
3) Small cell lung cancer
4) Neuroendocrine tumours (usually lung)
5) Breast cancer

63
Q

What is the difference between primary and secondary hyperparathyroidism?

A

Primary - excessive section of PTH from one or more glands

Secondary - hyperplasia of the gland with elevated PTH in response to hypocalcaemia

64
Q

What is tertiary hyperparathyroidism?

A

Adenoma in association with long standing secondary hyperparathyroidism

65
Q

Which group is primary hyperparathyroidism most common in?

A

White women

66
Q

Primary hyperparathyroidism is associated with what 3 risk factors (including on mutation)?

A

1) Aging, tumourogenesis in general
2) Association with ionizing radiation
3) MEN 2a

67
Q

Is primary HPT symptomatic?

A

Over 50% asymptomatic or oligosymptomatic (having few or minor symptoms)

68
Q

In symptomatic PHPT what are the 8 symptoms?

A

1) Arterial hypertension
2) Psychiatric problems
3) Hypercalcemia
4) Decreased renal function
5) Osteoporosis
6) HPT bone disease
7) Hypercalcaemia symptoms
8) Urolithiasis (bladder stones)

69
Q

What are the 3 causes of PHPT?

A

1) Single adenoma
2) Diffuse chief or clear cell hyperplasia
3) Carcinoma

70
Q

What is primary chief cell hyperplasia of the PT gland?

A

Non-neoplastic increase in PT parenchymal cell mass within all parathyroid tissue without a known stimulus

71
Q

What are the 5 symptoms of primary chief cell hyperplasia?

A

1) Fatigue
2) Lethargy
3) Anorexia
4) Weakness
5) Vomiting
(Bones, stones and abdominal moans)

72
Q

How is primary chief cell hyperplasia treated?

A

With surgery

73
Q

What is parathyroid adenoma?

A

An encapsulated benign neoplasm of parathyroid cells, have a single enlarged parathyroid gland, remaining glands are suppressed and small

74
Q

What are the symptoms of parathyroid adenoma?

A

Symptoms of hypercalcaemia

75
Q

What 3 conditions is parathyroid adenoma associated with?

A

MEN1 and MEN2 syndrome
Hyperparathyroidism
Jaw tumour syndrome

76
Q

Do secondary and tertiary HPT have a known stimulus?

A

Yes - non neoplastic increase in parathyroid parenchymal cell mass within all parathyroid tissue with a known stimulus (hypocalcemia)

77
Q

Secondary and tertiary PT are common in what patients?

A

Patients with renal failure and on dialysis

78
Q

Parathryroid carcinoma accounts for what percentage of PHPT?

A

Less than 5%

79
Q

The symptoms of parathyroid carcinoma are due to what?

A

Excess calcium

80
Q

How is parathyroid carcinoma treated, what is the percentage 10 year survival?

A

Treated with surgery

50% 10 year survival

81
Q

What is adrenal congenital hypoplasia?

A

Reduced volume of adrenocortical tissue leading to adrenal cortical insufficiency - rare

82
Q

Why is adrenal congenital hypoplasia more common in males?

A

Often X linked

83
Q

How is adrenal congenital hypoplasia now managed, how has the prognosis changed?

A

No managed with glucocorticoid and mineralocorticoid replacement which yields good outcome - mortality is high if left untreated

84
Q

What is congenital adrenal hyperplasia?

A

Inherited disorder caused by deficiency of enzymes required for synthesis of glucocorticoids and mineralocorticoids - have deficiencies of cortical and aldosterone secretion

85
Q

What 2 enzymes are often deficient in congenital adrenal hyperplasia?

A

1) 21 hydroxylase

2) 11-beta-hydroxylase

86
Q

What are the clinical features of congenital adrenal hyperplasia?

A

1) Genital ambiguity in females - normal in males
2) May be evidence of virilisation and hyperandrogenism
3) Advanced bone growth with premature epiphyseal maturation leading to short adult stature

87
Q

What is Addison’s disease?

A

Primary adrenal cortical insufficiency caused by adrenal dysgenesis, adrenal dysfunction

88
Q

What is the most common form of Addison’s disease?

A

Autoimmune disease

89
Q

What cause of Addison’s disease is becoming more common in the developing world?

A

TB

90
Q

Addison’s disease is a triad of what 3 symptoms?

A

1) Hyperpigmentation
2) Postural hypotension
3) Hyponatraemia

91
Q

What is the treatment of Addison’s disease?

A

Long term steroid replacement

92
Q

What is an adrenal cortical nodule, does it have any symptoms?

A

Benign, non-functional nodule of adrenal cortex

No clinical symptoms - usually and incidental discovery

93
Q

Do adrenal cortical nodules require treatment?

A

No

94
Q

Adrenal cortical nodules are higher in what 3 groups of patients?

A

1) Elderly
2) Hypotensive
3) Diabetic patients

95
Q

What is an adrenal cortical adenoma?

A

Benign neoplastic proliferation of adrenal cortical tissue

96
Q

What are the symptoms of adrenal cortical adenoma?

A

Related to endocrine hyperfunction

hypertension, Cushing’s syndrome and virilisation

97
Q

What is virilisation?

A

The development of male characteristics due to excess androgens

98
Q

Aldosterone producing adrenal cortical adenomas cause what syndrome?

A

Conn’s syndrome

99
Q

How does an adrenal cortical adenoma appear macroscopically?

A

Unilateral solitary mass of well circumscribed yellow/brown nodules, formed from lipid filled adrenal cortical cells

100
Q

Adrenal cortical carcinoma accounts for what percentage of endocrine neoplasms?

A

3%

101
Q

What are the symptoms of adrenal cortical carcinoma?

A

Symptoms related to hormone excess plus abdominal mass

102
Q

What is the percentage 5 year survival of adrenal cortical carcinoma?

A

70%

103
Q

What is phaeochromocytoma?

A

Catecholamine-secreting tumour arising from the adrenal medulla

104
Q

Most phaeochromocytomas are sporadic, but what are the 2 familial syndromes involved?

A

MEN2a von

MEN2b von

105
Q

What is the prognosis of phaeochromocytoma?

A

Excellent prognosis when benign and managed surgically

Malignant tumour may pursue and aggressive course

106
Q

What 3 chemicals would be elevated in the urine in phaeochromocytoma?

A

1) Catecholamines
2) Noradrenaline
3) Adrenaline

Year 2 Clinical Pathology (64 decks)

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