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MSRA > Endocrine > Flashcards

Endocrine Flashcards

1
Q

What is Cushing syndrome?

A

The clinical manifestation of pathological hypercortisolism from any cause

Exogenous corticosteroid exposure is the most common cause.

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2
Q

What is the most common cause of endogenous Cushing syndrome?

A

Cushing’s disease, caused by an ACTH-secreting pituitary adenoma

Responsible for 70-80% of cases.

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3
Q

What are some common presentations of Cushing syndrome?

A

Weight gain with central obesity, facial rounding, plethora, proximal muscle weakness, thinning of the skin

Also includes metabolic complications.

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4
Q

List some metabolic complications associated with Cushing syndrome.

A
  • Diabetes mellitus
  • Dyslipidaemia
  • Metabolic bone disease
  • Hypertension
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5
Q

What should be excluded before testing for Cushing syndrome?

A

Exogenous corticosteroid use

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6
Q

Name one of the four high-sensitivity tests for hypercortisolism.

A

Late-night salivary cortisol

Other options include low-dose dexamethasone suppression testing, 24-hour urinary free cortisol, and 48-hour dexamethasone suppression testing.

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7
Q

What should be done if a patient has a positive initial screening test for hypercortisolism?

A

At least one additional test should be used to confirm hypercortisolism.

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8
Q

What should be measured once endogenous hypercortisolism is confirmed?

A

Plasma ACTH

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9
Q

If ACTH is suppressed, what should diagnostic testing focus on?

A

The adrenal glands

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10
Q

If ACTH is not suppressed, what conditions should be sought?

A

Pituitary or ectopic disease

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11
Q

What is the primary treatment of choice for endogenous Cushing syndrome?

A

Surgical resection of the pituitary adenoma or adrenal adenoma causing hypercortisolism

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12
Q

What are multiple endocrine neoplasia (MEN) syndromes?

A

Rare hereditary tumour syndromes characterised by the development of multiple endocrine tumours.

MEN syndromes include MEN1 and MEN2 with distinct characteristics and associated tumours.

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13
Q

What gene is associated with MEN1?

A

Mutations in the tumour suppressor gene MEN1.

MEN1 is crucial for regulating cell growth and preventing tumour formation.

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14
Q

What is the diagnostic criteria for MEN1?

A

Patients must have ≥2 MEN1-associated tumours, 1 associated tumour with a 1st-degree relative, or a diagnosed pathogenic mutation of MEN1.

This diagnostic approach helps in early identification and management of the syndrome.

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15
Q

List the endocrine tumours associated with MEN1.

A

‘3 Ps’

  • Parathyroid adenomas
  • Pituitary adenomas
  • Pancreatic tumours
  • Gastrinomas
  • Neuroendocrine/carcinoid tumours from bronchial/gastric/thymic origin
  • Adrenal cortical tumours
  • CNS tumours, including meningiomas
  • Thyroid tumours
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16
Q

What are the non-endocrine tumours associated with MEN1?

A
  • Cutaneous tumours
  • Lipomas
  • Facial angiofibromas

These non-endocrine manifestations can also be significant in the clinical presentation of MEN1.

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17
Q

What is the common association of primary hyperparathyroidism in MEN1?

A

At least 90% of patients develop primary hyperparathyroidism by 50 years of age.

This statistic highlights the importance of monitoring for hyperparathyroidism in MEN1 patients.

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18
Q

What mutations are involved in MEN2?

A

RET proto-oncogene mutations.

These mutations lead to the development of medullary thyroid cancer and/or phaeochromocytoma.

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19
Q

What are the subgroups of MEN2?

A
  • MEN2A (Sipple’s syndrome)
  • MEN2B
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20
Q

What features are associated with MEN2A?

A

‘2Ms and one P’

  • Medullary thyroid cancer
  • Phaeochromocytoma
  • parathyroid adenomas with hyperparathyroidism

(* Hirschsprung’s disease
* Cutaneous lichen amyloidosis )

MEN2A is characterized by a combination of these features, which can vary among patients.

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21
Q

What features are associated with MEN2B?

A

‘2 Ms and 1 P’

  • Medullary thyroid cancer
  • Phaeochromocytoma
  • Marfanoid body habitus
    (* Mucosal intestinal ganglioneuromatosis )
22
Q

What defines familial medullary thyroid cancer?

A
  • Family patterns of isolated medullary thyroid cancers
  • Pedigrees of multiple carriers > 50 years of age
  • No other MEN2 manifestations

This form focuses on isolated occurrences of medullary thyroid cancer without broader MEN2 features.

23
Q

What is the importance of medical management in MEN syndromes?

A

Medical management of hormonal hypersecretion is important for symptom control.

Hormonal imbalances can lead to significant health issues if not managed appropriately.

24
Q

What is the role of surgical intervention in MEN syndromes?

A

Most tumours require surgical evaluation, though surgical cure is not always possible.

The surgical approach can vary based on tumour type and patient health.

25
Q

What is indicated for patients with MEN2 regarding thyroidectomy?

A

Prophylactic thyroidectomy in childhood is indicated in MEN2.

This preventive measure aims to reduce the risk of developing medullary thyroid cancer.

26
Q

What is necessary for genetic carriers of MEN syndromes post-surgery?

A

Lifelong monitoring is required, even after successful operations.

Continuous monitoring helps in early detection of potential tumour recurrence or new developments.

27
Q

What is the typical age of onset for endocrine tumours in MEN1?

A

Teenage years

Symptoms may not appear for several years and diagnosis is often delayed until the fourth decade of life.

28
Q

What is a common presenting feature of MEN1 in about 80% of patients?

A

Hyperparathyroidism

This can lead to hypercalcaemia and recurrent nephrolithiasis.

29
Q

What syndrome is associated with hypergastrinaemia in MEN1?

A

Zollinger-Ellison syndrome

This leads to increased gastric acid secretion.

30
Q

What condition in MEN1 is characterized by excess growth hormone?

A

Acromegaly

This can occur due to tumours of the pituitary gland.

31
Q

What types of tumours in MEN1 are mostly of cosmetic concern?

A

Angiofibromas, collagenomas, and lipomas

These tumours typically do not cause symptoms.

32
Q

What is the lifetime risk of developing medullary thyroid cancer (MTC) in untreated MEN2 patients?

A

More than 95%

MTC can present as early as 2 months old.

33
Q

What percentage of MEN2 patients develop phaeochromocytoma?

A

Around 40%

This condition can lead to various symptoms including hypertension.

34
Q

List some symptoms associated with hyperparathyroidism in MEN2.

A
  • Constipation
  • Polyuria
  • Polydipsia
  • Memory problems
  • Depression
  • Nephrolithiasis
  • Glucose intolerance
  • Gastro-oesophageal reflux
  • Fatigue

These symptoms are secondary to hypercalcaemia.

35
Q

What symptoms may indicate the presence of phaeochromocytoma in MEN2?

A
  • Hypertension
  • Episodic sweating
  • Diarrhoea
  • Pruritic skin lesions
  • Lump in the neck

Cutaneous lichen amyloidosis can occur, and compressive symptoms may arise from thyroid or parathyroid tumours.

36
Q

True or False: Symptoms from endocrine tumours in MEN1 typically appear early in life.

A

False

Symptoms may not appear for several years.

37
Q

Fill in the blank: Symptoms from tumours of the pituitary gland may cause symptoms by _______ effect.

A

mass

This refers to the physical pressure that the tumours exert on surrounding structures.

38
Q

What is Addison’s disease?

A

Addison’s disease, or primary adrenal insufficiency, is a disorder affecting the adrenal glands, causing insufficient production of adrenocortical hormones (cortisol, aldosterone, & dehydroepiandrosterone).

39
Q

What percentage of the adrenal cortex needs to be destroyed to produce adrenal insufficiency?

A

~90% of the adrenal cortex needs to be destroyed.

40
Q

What is secondary adrenal insufficiency?

A

Secondary adrenal insufficiency occurs in patients with pituitary or hypothalamic involvement, resulting in low adrenocorticotrophic hormone (ACTH) secretion and adrenal failure.

41
Q

What are common symptoms of Addison’s disease?

A

Symptoms include substantial fatigue, weakness, mucocutaneous hyperpigmentation, hypotension, postural hypotension, and salt craving.

42
Q

What is the ACTH stimulation test used for?

A

The ACTH stimulation test is performed to confirm or exclude the diagnosis of Addison’s disease.

43
Q

What type of hormone replacement is required for patients with Addison’s disease?

A

Patients require mineralocorticoid and glucocorticoid replacement for life.

44
Q

When should patients increase their glucocorticoid dose?

A

Patients should increase the dose of glucocorticoid during surgery and any stressful or infectious conditions.

45
Q

True or False: Over-replacement of mineralocorticoid and/or glucocorticoid can lead to treatment complications.

A

True

46
Q

Fill in the blank: Addison’s disease is characterized by insufficient production of _______.

A

[adrenocortical hormones]

47
Q

What are the two types of adrenal insufficiency?

A

The two types are primary adrenal insufficiency (Addison’s disease) and secondary adrenal insufficiency.

48
Q

What are the potential causes of Addison’s disease?

A

Causes include a destructive process affecting the adrenal glands or conditions interfering with hormone synthesis.

49
Q

What is normal range for plasma osmolarity

A

285-295

50
Q

What is normal range for plasma osmolarity

A

285-295

51
Q

Osmolarity in:
DKA
HHS

A
  1. > 290
  2. > 320

MSRA (9 decks)

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