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10. CP - Endocrine System and Disease > (53) Diseases of the endocrine system > Flashcards

(53) Diseases of the endocrine system Flashcards

1
Q

What is the difference between endocrine, paracrine and autocrine?

A

endocrine = secrete into blood stream and act systemically

paracrine = act locally

autocrine = affects the cell secreting the protein

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2
Q

Where is the pituitary gland situated?

A

in the sella turcica beneath the hypothalamus

- anterior (75%) and posterior parts (25%)

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3
Q

What are the anterior and posterior parts of the pituitary also called?

A

anterior lobe = adenohypophysis (formed by outpouching of oral cavity)

posterior lobe = neuropophysis (formed by downgrowth of hypothalamus)

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4
Q

What are the causes of anterior pituitary hypofunction?

A
  • tumours (non-secretory adenoma, metastatic carcinoma)
  • trauma
  • infection
  • inflammation (granulomatous, autoimmune, other infections)
  • iatrogenic
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5
Q

Describe the features of primary pituitary tumours

A
  • vast majority are adenomas and benign
  • may be derived from any hormone-producing cell
  • effect secondary to hormone being produced
  • local effects due to pressure on optic chiasma or adjacent pituitary
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6
Q

Name 3 types of anterior pituitary adenoma

A
  • prolactinoma
  • growth hormone secreting
  • ACTH secreting
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7
Q

What is the commonest anterior pituitary adenoma?

A

Prolactinoma

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8
Q

What do you get in prolactinoma pituitary adenomas?

A

Galactorrhoea and menstrual disturbance

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9
Q

What is galactorrhoea?

A

Excessive or inappropriate production of milk

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10
Q

What do you get in growth-hormone secreting pituitary adenomas?

A

Gigantism in children, acromegaly in adults

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11
Q

What does an ACTH secreting pituitary adenoma cause?

A

Cushing’s syndrome

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12
Q

Describe the anatomy of the thyroid

A

Bilobed, joined by isthmus, encased in thin fibrous capsule, located at level 5th/6th/7th vertebra in anterior neck, close to trachea

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13
Q

Describe the anatomic relationships of the thyroid

A
  • abuts thyroid cartilage of larynx

- recurrent laryngeal nerve located in tracheo-oesophgeal groove, close to posterior aspects of lateral lobes

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14
Q

What is cretinism?

A

Severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (congenital hypothyroidism) usually due to maternal hypothyroidism

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15
Q

What is the most common type of thyroid ectopia?

A

Lingual thyroid (usually at base of tongue)

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16
Q

What occurs in most patients with lingual thyroid?

A
  • over 75% have no other thyroid tissue
  • 70% have hypothyroid
  • 10% have cretinism
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17
Q

Other than lingual thyroid, what are the other possible sites of ectopic thyroid?

A
  • sella turcica
  • larynx
  • trachea
  • aortic arch
  • oesophagus
  • heart
  • pericardium
  • liver
  • gall bladder
  • pancreas
  • vagina
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18
Q

Why do thyroglossal duct cysts occur?

A

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

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19
Q

Who do thyroglossal duct cysts occur in?

A
  • most common in children and young adults

- 7% of adults

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20
Q

What is the treatment for thyroglossal duct cysts?

A

Sistrunk procedure (with 4-6% recurrence rate)

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21
Q

Where are the majority (75%) of thyroglossal duct cysts?

A

Anterior midline of neck or immediately below hyoid bone

- asymptomatic midline neck mass

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22
Q

What is acute thyroiditis?

A

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

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23
Q

Most cases of acute thyroiditis are due to what?

A

Generalised sepsis

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24
Q

What are the symptoms of acute thyroiditis?

A
  • fever
  • chills
  • malaise
  • pain
  • swelling of anterior neck
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25
Q

What does the prognosis of acute thyroiditis relate to?

A

The underlying condition

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26
Q

What is palpation thyroiditis?

A

Microscopic granulomatous foci centres on thyroid follicles - secondary to rupture of thyroid follicles due to palpation or surgery

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27
Q

Patients with palpation thyroiditis almost always have what?

A

A thyroid nodule

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28
Q

What is Riedel’s thyroiditis?

A

A rare fibrosing form of chronic thyroiditis

  • benign self-limited disease
  • may be mistaken for malignant neoplasm
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29
Q

In Riedel’s thyroiditis, the fibrosing disorder may also affect where?

A
  • retroperitoneum
  • lung
  • mediastinum
  • biliary tree
  • pancreas
  • kidney
  • subcutis
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30
Q

How may patients with Reidel thyroiditis present?

A
  • firm goitre
  • dysphagia
  • hoarseness
  • stridor
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31
Q

What is Hashimoto’s?

A

Chronic lymphocytic thyroiditis - autoimmune chronic inflammatory disorder associated with diffuse enlargement and thyroid autoantibodies

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32
Q

Who does Hashimoto’s occur in?

A
  • females much more common than males

- peak age at 59 years

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33
Q

What do you get in Hashimoto’s?

A
  • diffusely enlarged non-tender gland
  • serum thyroid antibodies elevated
  • lymphocytic infiltration of thyroid parenchyma, often with germinal centre formation
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34
Q

Is Hashimoto’s associated with hypothyroid or hyperthyroid?

A

Hypothyroid

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35
Q

What do patients with Hashimoto’s (chronic lymphocytic thyroiditis) have an increased risk of?

A
  • 80-fold increased risk of thyroid lymphoma

- increased risk of papillary carcinoma of the thyroid

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36
Q

What is Grave’s disease?

A

Au autoimmune process (activating antibodies to the TSH receptor) that results in diffuse hyperplasia of the thyroid and hyperthyroidism

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37
Q

What are the signs and symptoms of Grave’s disease?

A
  • symptoms of hyperthyroidism eg. irritability, muscle weakness, hair loss, tachycardia
  • symptoms of autoimmune process eg. exophalmos, goitre, pretibial myxoedema
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38
Q

What are the hormone changes in Grave’s disease (diffuse hyperplasia)?

A
  • T3 and T4 elevated

- TSH markedly suppressed

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39
Q

What are the autoantibodies in Grave’s disease?

A

Thyroid stimulating immunoglobulins

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40
Q

What is a multinodular goitre?

A

Enlargement of thyroid with varying degrees of modularity

- 1 or more thyroid nodules discovered by patient or doctor

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41
Q

Most patient with multi nodular goitre are euthyroid. What does this mean?

A

Have a normally functioning thyroid gland

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42
Q

What symptom may occur with multi nodular goitre?

A
  • tracheal compression or dysphasia may occur with large nodules
  • dominant nodule may be mistaken clinically for thyroid carcinoma
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43
Q

What is a follicular adenoma?

A

A benign encapsulated tumour with evidence of follicular cell differentiation

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44
Q

Who does follicular adenoma affect?

A
  • females more than males

- wide age range, usually 50-60

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45
Q

How does follicular adenoma present?

A
  • painless neck mass, often present for years
  • solitary nodule involving only one lobe
  • usually cold nodule on radioactive iodine imaging
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46
Q

What is the commonest type of papillary carcinoma?

A

Papillary carcinoma (over 70%)

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47
Q

Who does papillary carcinoma affect?

A

Females 2.5:1

  • mean 43 years
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48
Q

What is a papillary carcinoma?

A

A familial, autosomal dominant non-medullary thyroid carcinoma

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49
Q

Papillary carcinoma occurs as a result of what?

A
  • radiation exposure
  • FAP
  • Cowden’s syndrome
  • therapeutic irradiation
50
Q

What genetic alterations cause papillary carcinoma?

A
  • activation of RET or NTRK1
  • RAS mutations
  • BRAF V600E mutation
  • variety of chromosomal translocations or inversions
  • fusion of RET tyrosine kinase regions with constitutively expressed thyroid proteins eg. PTC1 in inv(10)(q11;q21), PTC2 t(10;17)(q11;q21)
51
Q

Describe the macroscopic appearance of papillary carcinoma

A
  • ill-defined, infiltrative
  • some encapsulated
  • may be cystic
  • granular
52
Q

Name 3 types of follicular neoplasms

A
  • follicular adenoma
  • minimally invasive follicular carcinoma
  • widely invasive follicular carcinoma
53
Q

10-20% of all thyroid cancers are what?

A

Follicular carcinoma

54
Q

How does follicular carcinoma present?

A
  • 90% present with solitary nodule in thyroid

- 10% present with distant metastasis

55
Q

How do minimally invasive and widely invasive follicular carcinomas differ in terms of metastasis?

A

minimally invasive = less than 5% metastasis

widely invasive = over 60% metastasis

56
Q

How do minimally invasive and widely invasive follicular carcinomas differ in terms of macroscopic and microscopic appearance?

A

minimally invasive = completely encapsulated, invasion only detectable histologically

widely invasive = macroscopic evidence of invasion, widespread invasion histologically
- minimally invasive but invades more than 4 capsular blood vessels

57
Q

Hurthle cell carcinoma is a type of what?

A

Differentiated thyroid carcinoma

58
Q

Describe the clinical behaviour of hurthle cell carcinoma

A
  • significant cervical lymph node metastasis (unlike follicular carcinoma)
  • common haematogenous sites = bone, liver, lung
59
Q

Who does hurthle cell carcinoma occur in?

A
  • median age = 53

- f:m = 7:3

60
Q

What is a better term for hurthle cell carcinoma?

A

Oncocytic carcinoma

61
Q

Describe the features of insular carcinoma

A
  • mean age = 58
  • often locally advanced
  • lymph node and distant metastases in 50%
  • at least 60% will die of disease
62
Q

Describe the features of anapaestic carcinoma

A
  • mean age = 65
  • rapidly enlarging thyroid mass
  • may be preceded by longstanding goitre
  • usually inoperable
  • median survival = months
63
Q

Describe the features of medullary carcinoma of they thyroid

A
  • malignant tumour showing differentiation to parafollicular C cells
  • 70-80% = sporadic
  • 20-30% = autosomal dominant inherited
  • MEN 2a and 2b
  • familial MTC
  • mutation in RET gene
64
Q

What is primary thyroid lymphoma?

A

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

  • makes up about 2% of thyroid neoplasms
  • mean age = 70s
65
Q

Primary thyroid lymphoma may be of what 2 types?

A
  • extranodal marginal zone type

- diffuse large B cell type

66
Q

Primary thyroid lymphoma are always what type of lymphoma?

A

Non-Hodgkin lymphoma

67
Q

How does primary thyroid lymphoma present?

A
  • mass in thyroid
  • rapid enlargement, pain and dysphagia
  • may have associated cervical lymphadenopathy
68
Q

What is the prognosis for primary thyroid lymphoma?

A

Dependent on histologic type and stage, overall 60% survival

69
Q

What are the possible metastatic tumours of the thyroid?

A
  • renal cell carcinoma (differential diagnosis with primary clear cell thyroid tumours)
  • melanoma
  • small cell lung cancer
  • neuroendocrine carcinoma (usually lung - differential diagnosis with medullary carcinoma)
  • breast cancer
70
Q

Which metastatic tumour would be part of the differential diagnosis of primary clear cell thyroid tumours?

A

Renal cell carcinoma

71
Q

Which metastatic tumour would be part of the differential diagnosis of medullary carcinoma of thyroid?

A

Neuroendocrine tumour (usually lung)

72
Q

What is primary hyperparathyroidism?

A

Excessive secretion of parathyroid hormone from one or more glands (PHPT)

73
Q

What is secondary hyperparathyroidism?

A

Hyperplasia of glands with elevated PTH in response to hypocalcaemia (due to renal insufficiency, malabsorption, vitamin D deficiency etc)

74
Q

What is tertiary hyperparathyroidism?

A

Adenoma in association with longstanding secondary hyperparathyroidism

75
Q

What is the pathogenesis behind primary hyperparathyroidism?

A
  • ageing, tumorigenesis in general
  • association with ionising radiation
  • MEN 2a
76
Q

Describe the incidence of primary hyperparathyroidism

A
  • 25/28 per 100,000

- 60/190 per 100,000 in WHITE WOMEN

77
Q

What are the potential symptoms/complications of PHPT?

A
  • most asymptomatic
  • arterial hypertension
  • psychiatric problems
  • hypercalcaemia
  • decreased renal function
  • osteoporosis
  • hyperparathyroid bone disease
  • hypercalcaemia symptoms
  • urolithiasis
78
Q

What are the 3 types of PHPT?

A
  • single adenoma (most)
  • diffuse chief or clear cell hyperplasia
  • carcinoma (1%)
79
Q

What is primary chief cell hyperplasia?

A

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

  • abnormalities in calcium metabolism
  • peak age = 50-70
80
Q

What are the symptoms of primary chief cell hyperplasia?

A
  • fatigue
  • lethargy
  • anorexia
  • weakness
  • vomiting
81
Q

What are the signs of primary chief cell hyperplasia?

A
  • elevated calcium
  • decrease in organic phosphorus
  • increased parahormone levels
82
Q

How is primary chief cell hyperplasia treated?

A

Surgery

83
Q

What is parathyroid adenoma?

A

An encapsulated benign neoplasm of parathyroid cells

- single enlarged parathyroid gland, remaining glands are suppressed and small

84
Q

The symptoms of parathyroid adenoma are due to what?

A

Hypercalcaemia

85
Q

Parathyroid adenoma is associated with which syndromes?

A
  • MEN1 and MEN2 syndrome

- hyperparathyroidism and jaw tumour syndrome

86
Q

What are secondary and tertiary parathyroidism?

A

Non-neoplastic increase in parathyroid parenchymal cell mass within all parathyroid tissue WITH a known stimulus

87
Q

Who is secondary and territory parathyroidism common in?

A

Patients with renal failure and on dialysis

88
Q

Secondary and territory parathyroidism have identical pathologic features to what?

A

Primary hyperplasia

- may be associated with massive gland enlargement

89
Q

What is parathyroid carcinoma?

A

Malignant tumour derived from parathyroid parenchymal cells

- less than 5% of primary hyperparathyroidism

90
Q

How is parathyroid carcinoma treated?

A

Surgery

91
Q

What is the prognosis for parathyroid carcinoma?

A

50% 10 year survival

92
Q

The symptoms of parathyroid carcinoma are referable to what?

A

Excess calcium

  • indolent with recurrence in about 50%
93
Q

What are the layers of the adrenal glands?

A
  • medulla
  • reticularis
  • fasciculata
  • glomerulosa
    = cortex
94
Q

What do the adrenal glands secrete?

A
  • catecholamines
  • androgens
  • cortisol
  • aldosterone
95
Q

What is adrenal congenital hypoplasia?

A

Reduced volume of adrenocortical tissue leading to adrenal cortical insufficiency (rare)

96
Q

The clinical features of adrenal congenital hypoplasia are due to what?

A

Hypoadrenalism

97
Q

How is adrenal congenital hypoplasia managed?

A

With glucocorticoid and mineralocorticoid replacement (mortality high if untreated)

98
Q

What causes adrenal congenital hypoplasia?

A
  • may be part of familial hereditary condition

- male predominance, often X-linked

99
Q

What is congenital adrenal hyperplasia?

A

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

100
Q

Lack of which enzymes causes congenital adrenal hyperplasia?

A
  • 21 hydroxylase deficiency = more than 90%
  • 11-beta-hydroxylase = 5%

Deficiencies of cortical and aldosterone secretion

101
Q

Describe the signs/complications in congenital adrenal hyperplasia

A
  • genital ambiguity in females, normal in males
  • may be evidence of virilisation and hyperandrogenism
  • advanced bone growth with premature epiphyseal maturation = short adult stature
102
Q

What is virilisation?

A

Male-pattern hair growth and other masculine physical traits in women
- can be caused by hyperandrogenism

103
Q

What is Addison’s disease?

A

Primary adrenal cortical insufficiency caused by adrenal dysgenesis, adrenal dysfunction

104
Q

What are the causes of Addison’s disease?

A
  • autoimmune against the adrenal cortex

- TB infection (more common in developing countries)

105
Q

What are the clinical features of Addison’s disease?

A
  • hyperpigmentation
  • postural hypotension
  • hyponatraemia
  • fatigue
  • weight loss
  • increased thirst
  • progressive anaemia
106
Q

How is Addison’s disease treated?

A

Long term steroid replacement

- high mortality if not diagnosed

107
Q

What are adrenal cortical nodules?

A

Benign non-functional nodules of adrenal cortex

108
Q

Adrenal cortical nodules occur more in who?

A
  • elderly
  • hypotensive
  • diabetic patients
109
Q

What are the symptoms of adrenal cortical nodules?

A
  • no clinical symptoms
  • incidental discovery on radiographic studies
  • no treatment required
110
Q

What is adrenal cortical adenoma?

A

Benign neoplastic proliferation of adrenal cortical tissue

111
Q

What are the symptoms of adrenal cortical adenoma?

A

Symptoms related to endocrine hyperfunction (hypertension, Cushing’s syndrome, virilisation)

112
Q

What do aldosterone-producing tumours cause?

A

Conn’s syndrome

113
Q

What do cortisol-producing tumours cause?

A

Cushing’s syndrome

114
Q

What is Conn’s syndrome?

A

Excess production of the hormone aldosterone by the adrenal glands resulting in low renin levels

115
Q

Describe an adrenal cortical adenoma

A
  • unilateral solitary masses
  • 2cm, less than 100g
  • well-circumscribed yellow/brown nodules
  • formed from lipid-filled adrenal cortical cells
116
Q

What are the features of adrenal cortical carcinoma

A
  • malignant counterpart of adrenal adenoma
  • symptoms related to hormone excess
  • abdominal mass
  • prognosis is age and stage dependent
  • 5 year survival about 70%
117
Q

What is phaeochromocytoma?

A

Catecholamine-secreting tumour arising from adrenal medulla (10% bilateral, 10% extra-adrenal, 10% malignant, 10% familial, 10% children)

118
Q

What is the prognosis of phaeochromocytoma?

A
  • excellent prognosis when benign and properly managed surgically
  • malignant tumour may pursue and aggressive course
119
Q

What are the hormone changes in phaeochromocytoma?

A

Elevated urine catecholamines, adrenaline and noradrenaline

120
Q

What are the causes of phaeochomocytoma?

A

Most are sporadic but may be due to familial syndromes MEN2a and 2b, von Recklinghausen’s disease, von Hippel-Lindau disease

121
Q

What are the symptoms of phaechromocytoma?

A
  • hypertensions
  • palpitations
  • headaches
  • anxiety

10. CP - Endocrine System and Disease (5 decks)

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