53 - Diseases of the endocrine system Flashcards Preview

Clinical Pathology > 53 - Diseases of the endocrine system > Flashcards

Flashcards in 53 - Diseases of the endocrine system Deck (92):
1

Pituitary gland - features

Situated in Sella Turcica beneath hypothalamus

Ant part (75%) - outpouching of oral cavity

Post part (25%) down growth of hypothalamus

2

Ant. pit. hypofunction

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

3

1° pituitary tumours

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

4

Types of pit adenoma

Prolactinoma (most common) - galactorrhoea and menstrual disturbance

Growth hormone secretion - gigantism in children. acromegaly in adults

ACTH secreting - Cushing's syndrome

5

Thyroid anatomy

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

6

Thyroid embryology

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

7

Ectopia and heterotopia

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

The others have hypothyroid and 10% of these cretinism

8

Thyroglossal duct cyst

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

7% of adults
Asymptomatic midline neck mass

9

Acute thyroiditis

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

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

10

Palpation thyroiditis

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

11

Riedel thyroiditis

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

12

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

Autoimmune chronic inflammatory disorder associated with diffuse enlargement and thyroid autoantibodies

13

Chronic lymphocytic thyroiditis (Hashimoto's) - risk factors

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

14

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

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

15

Diffuse hyperplasia (Grave's) - epidemiology

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

16

Diffuse hyperplasia (Grave's) - clinical presentation

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

17

Multinodular goitre

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

18

Follicular adenoma

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

19

Papillary carcinoma - who? prevalence?

commonest type of tyroid carcinoma

F>M
43 yo mean

20

Papillary carcinoma - risk factors

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

21

Papillary carcinoma - pathogenesis

Activation of RET or NTRK1

Variety of chromosomal translocations or inversions

BRAF V600E
RAS mutations

22

Papillary carcinoma - macroscopic appearance

Ill defined
Infiltrative
Some encapsulated
May be cystic
Granular

23

Follicular neoplasms - types

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

24

Follicular carcinoma - %%%

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

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

25

Follicular neoplasms - minimal vs widely invasive

min: completely encapsulated, invasion only detectable histologically

wide: macroscopic evidence of invasion. Widespread invasion histologically. Minimally invasive but tumour invades >4 capsular blood vessels.

26

Hurthle cell carcinoma - what is it?

Recognised large acidophilic cells in canine thyroid

Parafollicular or C cells

27

Hurthle cell carcinoma - who?

3% of all differentiated thyroid carcinomas

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

28

Hurthle cell carcinoma - clinical behaviour

Significant incidence of lymph node mets

Common haemato spread to bone, liver and lung

29

Insular carcinoma - who?

Elderly patients of mean age 58

30

Insular carcinoma - mets?

Lymph node and distant mets in up to 50%

up to 60% will die

31

Anaplastic carcinoma - who?

Older patients
Mean age 65

32

Anaplastic carcinoma - clinical presentation

Longstanding history of goitre
Usually inoperable

33

Anaplastic carcinoma - prognosis

Median survival is months

34

Medullary carcinoma - what is it?

Malignant tumour showing differentiation to parafollicular C cells

35

Medullary carcinoma - genetic basis

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

36

Primary thyroid lymphoma - what is it?

Primary lymphoma arising within thyroid gland often associated with lymphocytic thyroiditis

37

Primary thyroid lymphoma - who?

2% of thyroid neoplasms
Mean age 70

38

Primary thyroid lymphoma - clinical presentation

Mass in thyroid
Rapid enlargement
Pain
Dysphagia

Associated cervical lymphadenopathy

39

Primary thyroid lymphoma - prognosis

Dependent on histology + stage

60% survival

40

Where do thyroid tumours met to?

Renal cell carcinoma
Melanoma
Small cell lung cancer
Neuroendocrine carcinoma
Breast cancer

41

Primary hyperparathyroidism definition

Excessive section of PTH from one of more glands

42

Secondary hyperparathyroidism

Hyperplasia of glands with elevated PTH in response to hypocalcaemia

Renal insufficiency, malabsorption, vit D deficiency

43

Tertiary hyperparathyroidism

Adenoma in association with longstanding secondary hyperparathyroidism

44

Primary hyperparathyroidism - pathogenesis

Ageing
Ionising radiation
MEN 2a

45

Primary hyperparathyroidism - types

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

46

Primary chief cell hyperplasia - definition

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

47

Primary chief cell hyperplasia - who?

17 per 1,000,000
Peak age = 50-70 yo

48

Primary chief cell hyperplasia - symptoms

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

Elevated calcium, low phosphorous high parahormone

49

Primary chief cell hyperplasia - treatment

surgery

50

Parathyroid adenoma - what is it?

Encapsulated benign neoplasm of parathyroid cells

51

Parathyroid adenoma - who?

1 per 1,000

52

Parathyroid adenoma - symptoms

Hypercalcaemia

53

Parathyroid adenoma - risk factors

MEN1 and MEN2 and hyperparathyroidism and jaw tumour syndrome

54

Parathyroid adenoma - clinical presentation

Single enlarged parathyroid gland, remaining gland suppressed and small

55

Parathyroid carcinoma - what is it?

Malignant tumour derived from parathyroid parenchymal cells

56

Parathyroid carcinoma - prevalence

5% of primary hyperparathyroids

57

Parathyroid carcinoma - symptoms

Hypercalcaemia

58

Parathyroid carcinoma - prognosis

50% 10 year survival rate

59

Parathyroid carcinoma - treatment

Surgery

60

Adrenal congenital hypoplasia - what is it?

Reduced volume of adrenocortical tissue leading to adrenal cortical insufficiency

61

Adrenal congenital hypoplasia - prevalence?

Rare

62

Adrenal congenital hypoplasia - risk factors

Family

63

Adrenal congenital hypoplasia - prognosis

poor if untreated

64

Adrenal congenital hypoplasia - who?

Male predominance often XL

65

Adrenal congenital hypoplasia - clinical presentation

Hypoadrenalism

66

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

Glucocorticoid and mineralocorticoid replacement

67

Congenital adrenal hyperplasia - what is it?

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

68

Congenital adrenal hyperplasia - pathogenesis

21 hydroxylase deficiency accounts for more than 90%

69

Congenital adrenal hyperplasia - clinical presentation

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

Addison's disease - what is it?

Primary adrenal cortical insufficiency caused by adrenal dysgenesis, adrenal destruction

71

Addison's disease - who?

5.3 per million pop
High mortality if not diagnosed

72

Addison's disease - pathogenesis

Autoimmune form most common
TB more in developing world

73

Addison's disease - clinical presentation

hyperpigmentation, postural hypotension and hyponatraemia

74

Addison's disease - treatment

Long term steroid replacement

75

Adrenal cortical nodule - what is it?

Benign non-functional nodules of adrenal cortex

76

Adrenal cortical nodule - who?

1.5 and 3% of population

Elderly, hypotensive and diabetic

77

Adrenal cortical nodule - how often diagnosed?

Incidental on radiograph

78

Adrenal cortical nodule - treatment

none required

79

Adrenal cortical adenoma - what is it?

Benign neoplastic proliferation of adrenal cortical tissue

80

Adrenal cortical adenoma - incidence

1-5% of pop

81

Adrenal cortical adenoma - symptoms related to endocrine hyperfunction

Hypertension
Cushing's
Virilisation

82

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

Aldosterone-producing tumours can cause Conn's syndrome

Cortisol-producing reduce Cushing's syndrome

Rare tumours cause virilisation

83

Adrenal cortical adenoma - look like

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

84

Adrenal cortical carcinoma - what is it?

Malignant counterpart of adrenal adenoma

85

Adrenal cortical carcinoma - who?

3% of endocrine neoplasms
1 per million pop

86

Adrenal cortical carcinoma - symptoms

Hormone excess
Ab mass

87

Adrenal cortical carcinoma - prognosis

age, stage
5yr = 70%

88

Phaeochromocytoma - what is it?

Catecholamine-secreting tumour arising from adrenal medulla

89

Phaeochromocytoma - who?

8 per million

90

Phaeochromocytoma - pathogenesis

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

91

Phaeochromocytoma - tests

elevated urine catecholamines, adrenaline, noradrenaline

92

Phaeochromocytoma - prognosis

excellent when benign and surgically managed

Decks in Clinical Pathology Class (65):