53 - Diseases of the endocrine system Flashcards

1
Q

Pituitary gland - features

A

Situated in Sella Turcica beneath hypothalamus

Ant part (75%) - outpouching of oral cavity

Post part (25%) down growth of hypothalamus

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2
Q

Ant. pit. hypofunction

A

Tumours - non-sec adenoma, metastatic carcinoma
Trauma
Infarction
Inflammation - granulomatous, autoimmune, other infections
Iatrogenic

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3
Q

1° pituitary tumours

A

Most are adenomas + benign
Derived from any hormone producing cell
Functional clinical effect 2° to hormone being produced
Local effects due to pressure on optic chiasma or adjacent pituitary

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4
Q

Types of pit adenoma

A

Prolactinoma (most common) - galactorrhoea and menstrual disturbance

Growth hormone secretion - gigantism in children. acromegaly in adults

ACTH secreting - Cushing’s syndrome

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5
Q

Thyroid anatomy

A

Bilobed joined by isthmus
Thin fibrous capsule
C5,6,7

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6
Q

Thyroid embryology

A

Main part migrates from foregut to ant. neck (remnant is foramen caecum at junction 2/3 and post 1/3 of tongue

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7
Q

Ectopia and heterotopia

A

Lingual thyroid - most common at base of tongue
>75% of patients with this are asymptomatic.

The others have hypothyroid and 10% of these cretinism

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8
Q

Thyroglossal duct cyst

A

Persistent track representing the embryological migratory path of thyroid anlage of the ant. neck

7% of adults
Asymptomatic midline neck mass

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9
Q

Acute thyroiditis

A

Acute inflammation of the thyroid parenchyma associated with local/systemic infection

Generalised sepsis
Fever, chills, malaise, pain, swelling of ant. neck

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10
Q

Palpation thyroiditis

A

Microscopic granulomatous foci centred on thyroid follicles

2° to rupture of thyroid follicles due to palpation or surgery

Patients almost always have a thyroid nodule

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11
Q

Riedel thyroiditis

A

Rare fibrosing form of chronic thyroiditis

Fibrosing disorder may also affect retroperitoneum, lung, mediastinum, biliary tree, pancreas, kidney, subcutis.

Present with firm goitre

Symptoms inc. dysphagia, hoarseness, stridor.

Mistaken for malignant neoplasm

Benign self-limited disease

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12
Q

Chronic lymphocytic thyroiditis (Hashimoto’s) - what is it?

A

Autoimmune chronic inflammatory disorder associated with diffuse enlargement and thyroid autoantibodies

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13
Q

Chronic lymphocytic thyroiditis (Hashimoto’s) - risk factors

A
Female>male
Peak age = 59
Diffusely enlarged non-tender gland
Serum thyroid antibodies elevated
Lymphocytic infiltration of thyroid parenchyma, often with germinal centre formation
Causes hypothyroid
80-fold risk of thyroid lymphoma
Increased risk of papillary carcinoma of the thyroid
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14
Q

Diffuse hyperplasia (Grave’s) - what is it?

A

Autoimmune process results in clinical hypothyroidism and diffuse hyperplasia of the follicular epithelium

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15
Q

Diffuse hyperplasia (Grave’s) - epidemiology

A
1% worldwide
Female>male
Peak in third and fourth decades
80% of hypothyroidism cases
Symptoms of hyperthyroidism
Thyroid diffusely enlarged
T3 and T4 elevated w/ TSH suppressed
Thyroid autoantibodies especially TSH Ig
May develop permanent hypothyroidism
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16
Q

Diffuse hyperplasia (Grave’s) - clinical presentation

A

Pretibial myxoedema, hair loss, wide-eyed stare or proptosis, tachycardia, hyperactive reflexes

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17
Q

Multinodular goitre

A

Enlargement of thyroid with varying degrees of nodularity
Most patients are euthyroid
Dominant nodule may be mistaken clinically for thyroid carcinoma
Tracheal compression or dysphagia may develop with large nodules

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18
Q

Follicular adenoma

A

Benign encapsulated tumour with evidence of follicular cell differentiation

F>M
Wide age range - 50,60
Painless neck mass for years
Solitary nodule involved one lobe
Usually cold nodule on radioactive iodine imaging
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19
Q

Papillary carcinoma - who? prevalence?

A

commonest type of tyroid carcinoma

F>M
43 yo mean

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20
Q

Papillary carcinoma - risk factors

A
Familial autosomal dominant non-medullary thyroid carcinoma
FAP
Cowden's syndrome
Therapeutic radiation
Radiation exposure
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21
Q

Papillary carcinoma - pathogenesis

A

Activation of RET or NTRK1

Variety of chromosomal translocations or inversions

BRAF V600E
RAS mutations

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22
Q

Papillary carcinoma - macroscopic appearance

A
Ill defined
Infiltrative
Some encapsulated
May be cystic
Granular
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23
Q

Follicular neoplasms - types

A

Follicular adenoma
Minimally invasive follicular carcinoma
Widely invasive follicular carcinoma
Hurthle cell neoplasm

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24
Q

Follicular carcinoma - %%%

A

10-20% of all thyroid cancers
90% present with solitary nodule in thyroid

Minimally invasive = 5% mets
Widely invasive = 60% mets

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25
Q

Follicular neoplasms - minimal vs widely invasive

A

min: completely encapsulated, invasion only detectable histologically
wide: macroscopic evidence of invasion. Widespread invasion histologically. Minimally invasive but tumour invades >4 capsular blood vessels.

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26
Q

Hurthle cell carcinoma - what is it?

A

Recognised large acidophilic cells in canine thyroid

Parafollicular or C cells

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27
Q

Hurthle cell carcinoma - who?

A

3% of all differentiated thyroid carcinomas

Med age: 53 (24 -85yo tho)
Sex F:M, 7:3

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28
Q

Hurthle cell carcinoma - clinical behaviour

A

Significant incidence of lymph node mets

Common haemato spread to bone, liver and lung

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29
Q

Insular carcinoma - who?

A

Elderly patients of mean age 58

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30
Q

Insular carcinoma - mets?

A

Lymph node and distant mets in up to 50%

up to 60% will die

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31
Q

Anaplastic carcinoma - who?

A

Older patients

Mean age 65

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32
Q

Anaplastic carcinoma - clinical presentation

A

Longstanding history of goitre

Usually inoperable

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33
Q

Anaplastic carcinoma - prognosis

A

Median survival is months

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34
Q

Medullary carcinoma - what is it?

A

Malignant tumour showing differentiation to parafollicular C cells

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35
Q

Medullary carcinoma - genetic basis

A
70-80% are sporadic
20-30% are AD
MEN2a and B
Familial MTC
Mutations in RET gene
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36
Q

Primary thyroid lymphoma - what is it?

A

Primary lymphoma arising within thyroid gland often associated with lymphocytic thyroiditis

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37
Q

Primary thyroid lymphoma - who?

A

2% of thyroid neoplasms

Mean age 70

38
Q

Primary thyroid lymphoma - clinical presentation

A

Mass in thyroid
Rapid enlargement
Pain
Dysphagia

Associated cervical lymphadenopathy

39
Q

Primary thyroid lymphoma - prognosis

A

Dependent on histology + stage

60% survival

40
Q

Where do thyroid tumours met to?

A
Renal cell carcinoma
Melanoma
Small cell lung cancer
Neuroendocrine carcinoma
Breast cancer
41
Q

Primary hyperparathyroidism definition

A

Excessive section of PTH from one of more glands

42
Q

Secondary hyperparathyroidism

A

Hyperplasia of glands with elevated PTH in response to hypocalcaemia

Renal insufficiency, malabsorption, vit D deficiency

43
Q

Tertiary hyperparathyroidism

A

Adenoma in association with longstanding secondary hyperparathyroidism

44
Q

Primary hyperparathyroidism - pathogenesis

A

Ageing
Ionising radiation
MEN 2a

45
Q

Primary hyperparathyroidism - types

A

Single adenoma (85%)
Diffuse chief or clear cell hyperplasia (10%)
Carcinoma (5%)

46
Q

Primary chief cell hyperplasia - definition

A

Non-neoplastic increase in parathyroid parenchymal cell mass within all parathyroid tissue w/o a known stimulus

47
Q

Primary chief cell hyperplasia - who?

A

17 per 1,000,000

Peak age = 50-70 yo

48
Q

Primary chief cell hyperplasia - symptoms

A

Fatigue, lethargy, anorexia, weakness, vomiting, bones, stones and ab moans

Elevated calcium, low phosphorous high parahormone

49
Q

Primary chief cell hyperplasia - treatment

A

surgery

50
Q

Parathyroid adenoma - what is it?

A

Encapsulated benign neoplasm of parathyroid cells

51
Q

Parathyroid adenoma - who?

A

1 per 1,000

52
Q

Parathyroid adenoma - symptoms

A

Hypercalcaemia

53
Q

Parathyroid adenoma - risk factors

A

MEN1 and MEN2 and hyperparathyroidism and jaw tumour syndrome

54
Q

Parathyroid adenoma - clinical presentation

A

Single enlarged parathyroid gland, remaining gland suppressed and small

55
Q

Parathyroid carcinoma - what is it?

A

Malignant tumour derived from parathyroid parenchymal cells

56
Q

Parathyroid carcinoma - prevalence

A

5% of primary hyperparathyroids

57
Q

Parathyroid carcinoma - symptoms

A

Hypercalcaemia

58
Q

Parathyroid carcinoma - prognosis

A

50% 10 year survival rate

59
Q

Parathyroid carcinoma - treatment

A

Surgery

60
Q

Adrenal congenital hypoplasia - what is it?

A

Reduced volume of adrenocortical tissue leading to adrenal cortical insufficiency

61
Q

Adrenal congenital hypoplasia - prevalence?

A

Rare

62
Q

Adrenal congenital hypoplasia - risk factors

A

Family

63
Q

Adrenal congenital hypoplasia - prognosis

A

poor if untreated

64
Q

Adrenal congenital hypoplasia - who?

A

Male predominance often XL

65
Q

Adrenal congenital hypoplasia - clinical presentation

A

Hypoadrenalism

66
Q

Adrenal congenital hypoplasia - used to be fatal now treatment is…

A

Glucocorticoid and mineralocorticoid replacement

67
Q

Congenital adrenal hyperplasia - what is it?

A

Inherited disorder caused by deficiency of enzymes req. for synthesis of glucocorticoids and mineralocorticoids

68
Q

Congenital adrenal hyperplasia - pathogenesis

A

21 hydroxylase deficiency accounts for more than 90%

69
Q

Congenital adrenal hyperplasia - clinical presentation

A

Deficiencies of cortical and aldosterone secretion

Genital abnormality in females, nomral in males

Virilisation and hyperandrogenism

Advanced bone growth with premature epiphyseal maturation leading to short adult stature

70
Q

Addison’s disease - what is it?

A

Primary adrenal cortical insufficiency caused by adrenal dysgenesis, adrenal destruction

71
Q

Addison’s disease - who?

A

5.3 per million pop

High mortality if not diagnosed

72
Q

Addison’s disease - pathogenesis

A

Autoimmune form most common

TB more in developing world

73
Q

Addison’s disease - clinical presentation

A

hyperpigmentation, postural hypotension and hyponatraemia

74
Q

Addison’s disease - treatment

A

Long term steroid replacement

75
Q

Adrenal cortical nodule - what is it?

A

Benign non-functional nodules of adrenal cortex

76
Q

Adrenal cortical nodule - who?

A

1.5 and 3% of population

Elderly, hypotensive and diabetic

77
Q

Adrenal cortical nodule - how often diagnosed?

A

Incidental on radiograph

78
Q

Adrenal cortical nodule - treatment

A

none required

79
Q

Adrenal cortical adenoma - what is it?

A

Benign neoplastic proliferation of adrenal cortical tissue

80
Q

Adrenal cortical adenoma - incidence

A

1-5% of pop

81
Q

Adrenal cortical adenoma - symptoms related to endocrine hyperfunction

A

Hypertension
Cushing’s
Virilisation

82
Q

Adrenal cortical adenoma - what do they release sometimes? what does this cause?

A

Aldosterone-producing tumours can cause Conn’s syndrome

Cortisol-producing reduce Cushing’s syndrome

Rare tumours cause virilisation

83
Q

Adrenal cortical adenoma - look like

A

Unilateral solitary masses
Average size 2cm
Well-circumscribed yellow/brown nodules

84
Q

Adrenal cortical carcinoma - what is it?

A

Malignant counterpart of adrenal adenoma

85
Q

Adrenal cortical carcinoma - who?

A

3% of endocrine neoplasms

1 per million pop

86
Q

Adrenal cortical carcinoma - symptoms

A

Hormone excess

Ab mass

87
Q

Adrenal cortical carcinoma - prognosis

A

age, stage

5yr = 70%

88
Q

Phaeochromocytoma - what is it?

A

Catecholamine-secreting tumour arising from adrenal medulla

89
Q

Phaeochromocytoma - who?

A

8 per million

90
Q

Phaeochromocytoma - pathogenesis

A

Most sporadic but familial = MEN2a and 2b von recklinghausen’s disease and von hippel-lindau disease symptoms of hypertensions, palpitations, headaches and anxiety.

91
Q

Phaeochromocytoma - tests

A

elevated urine catecholamines, adrenaline, noradrenaline

92
Q

Phaeochromocytoma - prognosis

A

excellent when benign and surgically managed