Lecture 16: Pathology of Endocrine Diseases Flashcards

1
Q

What is the function of the thyroid gland?

A
  • synthesis, storage and release of thyroxine (T4) and triiodothyronine (T3) > REGULATES BASAL METABOLIC RATE (BMR).
  • secretion of calcitonin > REGULATES CALCIUM HOMEOSTASIS.
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2
Q

thyroid epithelial cells are arranged in follicles with colloid, what does colloid contain?

A

thyroglobulin

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3
Q

what is the function of thyroid epithelial cells?

A
  • thyroglobulin synthesis, iodination, resorption and release of T3 & T4.
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4
Q

what is the most common cause of multi-nodular goitre?

explain the mechanism

A

Iodine deficiency, goitrogens > impaired synthesis of T3, T4 > increased TSH > hypertrophy and hyperplasia of thyroid epithelium

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5
Q

investigation of thyroid nodule

A

TFTs
US
FNA - cytology

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6
Q

thyroid carcinoma risk factors

A
  • family history
  • chronic inflammatory exposure
  • radiation exposure
  • obesity
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7
Q

features of a thyroid follicular adenoma

A
  • benign neoplasm
  • most non-functioning
  • circumscribed, encapsulated tumour
  • histology often small microfollicles
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8
Q

features of a follicular carcinoma of the thyroid gland

A
  • rare, usually solitary
  • malignant cells breach capsule
  • mets - blood, bone
  • RAS mutation or PAX8/PPARG translocation
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9
Q

features of thyroid papillary carcinoma

A
  • usually < 50 years old
  • BRAF mutation or RET/PTC gene arrangement
  • associated with exposure to ionising radiation
  • spreads via lymphatics but excellent prognosis: 85% survival 10 years (esp. < 55 years old).
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10
Q

features of a thyroid medullary carcinoma

A
  • malignant tumour of C-cells
  • produces calcitonin (+/- other polypeptides)
  • 70% sporadic
  • 30% MEN 2A,2B, familial FMTC: mutations in RET proto-oncogene > prophylactic thyroidectomy advised.
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11
Q

what is the treatment for a thyroid carcinoma?

go through each type

A
  • follicular and papillary usually treated by surgery and radioactive iodine
  • medullary often treated by surgery and external radiotherapy
  • anaplastic: often no viable surgical option
  • replacement hormones usually required following surgery
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12
Q

what is the most common cause of pituitary hyperfunction?

A

pituitary adenoma

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13
Q

effects of pituitary adenoma

think about each hormone secreted

A

If functioning adenoma > hormone excess:
- Prolactinoma (20-30%): galactorrhoea, menstrual disorders
- GH secreting: acromegaly, gigantism
- ACTH secreting: Cushing’s disease

Non-functioning:
- 25-30% of detected tumours
- immunohistochemical and/or ultrastructural demonstration of hormone production only (mostly prolactin)

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14
Q

effects of large pituitary mass

A
  • radiographic abnormalities
  • visual field abnormalities
  • elevated ICP
  • compression damage - hypopituitarism
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15
Q

causes of pituitary hypofunction (75% needs to be lost)

A
  • compression by tumours: craniopharyngioma, metastatic
  • trauma
  • infection (rare): TB, sarcoidosis
  • post-partum ischaemic necrosis: Sheehan’s syndrome
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16
Q

list 3 syndromes causing adrenal cortical hyperfunction

A
  • hypercortisolism: Cushing’s syndrome
  • Hyperaldosteronism: Conn’s syndrome
  • adrenogenital syndromes
17
Q

give a cause of acute adrenal insufficiency

A
  • meningococcal septicaemia: Waterhouse Friderichsen
18
Q

list causes of chronic adrenal insufficiency

A

1 year - Addison’s disease:
- autoimmune
- infections: TB, fungus HIV-related infections
- replacement: metastatic carcinoma and amyloidosis
- atrophy: prolonged steroid therapy
- congenital hypoplasia

2 years - Pituitary failure

19
Q

describe multiple endocrine neoplasia

A
  • genetically inherited diseases resulting in hyperplasia and benign and malignant tumours of the endocrine system.
  • younger age, multifocal
  • several distinct syndromes
20
Q

features of MEN 1 (Wermer syndrome)

A
  • MEN1 tumour suppressor gene mutation - defect in menin protein involved in regulating cell growth.
  • parathyroid hyperplasia and adenomas.
  • pancreatic and duodenal endocrine tumours (hypoglycaemia and ulcers).
  • pituitary adenoma (prolactinoma).
21
Q

features of MEN 2 syndrome

include MEN2A and MEN2B

A
  • RET proto-oncogene mutations.
  • medullary carcinoma of thyroid
  • phaeochromocytoma

MEN 2A (Sipple syndrome):
+ parathyroid hyperplasia

MEN 2B:
+ neuromas of skin & mucous membrane, skeletal abnormalities
+ younger patients, aggressive

22
Q

what neoplasia/hyperplasia are present in MEN 1?

A
  • pituitary adenoma
  • parathyroid hyperplasia
  • pancreatic tumours
23
Q

what neoplasia/hyperplasia are present in MEN 2A?

A
  • parathyroid hyperplasia
  • medullary thyroid carcinoma
  • pheochromocytoma
24
Q

what neoplasia/hyperplasia are present in MEN 2B?

A
  • mucosal neuromas
  • marfanoid body habitus
  • medullary thyroid carcinoma
  • pheochromocytoma