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Endocrine > Other Endocrine Diseases > Flashcards

Other Endocrine Diseases Flashcards

1
Q

What are the associated neoplasias of MEN1?

A

Pituitary, parathyroid, pancreatic (3 Ps)

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2
Q

What are the associated neoplasias of MEN2A?

A

Medullary Thyroid Ca, Pheochormocytoma, Parathyroid (2Ps, 1M)

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3
Q

What are the associated neoplasias of MEN2B?

A

Medullary thyroid Ca, Marfanoid habitus/mucosal neuroma, Pheochromocytoma (1P, 2Ms)

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4
Q

What are the genetics of the MEN1?

A

Autosomal dominant, MEN1 gene-11q, classic tumour suppressor, bi-allelic inactivation and LOH, mutations occur throughout MEN1 gene

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5
Q

What are the genetics of MEN2?

A

Autosomal dominant, RET gene-10q, Classic proto-oncogene, activating mutations limited to specific codons

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6
Q

Why is MEN1 important?

A

Premature morbidity and mortality-50% of affected individuals will die as a direct result of the disease. Considerable psychological burden

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7
Q

What are the genetics of VHL syndrome?

A

Mutation in VHL gene-autosomal dominant

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8
Q

What does the mutation in VHL syndrome lead to?

A

Accumulation of HIF proteins and stimulation of cellular proliferation

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9
Q

What are the classic symptoms of NF1?

A

Axillary freckling, cafe au lait patches, neurofibromas

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10
Q

What are some pitfalls in phaeochromocytoma diagnosis?

A

Catecholamines raised in heart failure, episodic catecholamine secretion , malignant/extra adrenal tumours less efficient at catecholamine synthesis

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11
Q

What are the acute symptoms of hypercalcaemia?

A

Thirst, dehydration, confusion, polyuria

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12
Q

What are the chronic symptoms of hypercalcaemia?

A

Myopathy, osteopaenia, fractures, depression, HT, abdo pain-pancreatitis, ulcers, renal stones

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13
Q

What should you think to remind you of hypercalcaemia?

A

Stones, groans, bones, psychic moans

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14
Q

What does hypercalcaemia with normal/low albumin with suppressed PTH and high phosphate indicate?

A

Bone pathology

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15
Q

In hypercalcaemia caused by a bone pathology what does high alkaline phosphatase indicate?

A

Bone mets, sarcoidosis, thyrotoxicosis

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16
Q

In hypercalcaemia caused by a bone pathology what does low alkaline phosphatase indicate?

A

Myeloma, vit D excess, mild-alkali syndrome (thyrotoxicosis, sarcoidosis, raised bicarb)

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17
Q

In hypercalcaemia with normal/low albumin, PTH normal/high, phosphate low/normal and increased urine calcium what is the likely cause?

A

Primary/tertiary hyperparathyroidism

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18
Q

In hypercalcaemia with normal/low albumin, PTH normal/high, phosphate low/normal and decreased urine calcium what is the likely cause?

A

FHH

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19
Q

In hypercalcaemia with raised albumin and urea what is the likely cause?

A

Dehydration

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20
Q

In hypercalcaemia what does a raised albumin but normal urea usually indicate?

A

Cuffed sample

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21
Q

What are the causes of hypercalcaemia?

A

Primary hyperparathyroidism, malignancy, drugs:vit D, thiazides, granulomatous disease e.g. sarcoid, TB, FHH, high turnover (bedridden, thyrotoxic, pagets), tertiary hyperparathyroidism, others

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22
Q

How is a diagnosis of primary hyperparathyroidism made?

A

Raised serum calcium, raised serum PTH (or inappropriately normal), increased urine calcium excretion

23
Q

How does hypercalcaemia occur due to malignancy?

A

Metastatic bone destruction, PTHrp from solid tumours, osteoclast activating factors

24
Q

How do you diagnosis hypercalcaemia of malignancy?

A

Raised calcium and ALP, X-ray, CT, MRI, isotope bone scan

25
Q

What is the treatment for acute hypercalcaemia?

A

Fluids-rehydrate with 0.9% saline 4-6l in 24hrs, consider loop diuretics once rehydrated, biphosphonates, steroids e.g. pred 40-60mg/day for sarcoidosis, chemo in malignant disease

26
Q

What is the management of primary hyperparathyroidism?

A

Surgery (but not always required) or nothing.

27
Q

What are the indications for parathyroidectomy?

A

End organ damage: bone disease (osteitis fibosa et cystica; brown tumours/pepper pot skull), gastric ulcers, renal stones, osteoporosis, very high calcium (>2.85mmol/l), under age 50, eGFR decreased

28
Q

What is secondary hyperparathyroidism?

A

Physiological response to low calcium

29
Q

What is tertiary hyperparathyroidism?

A

Parathyroid becomes autonomous after many years of secondary

30
Q

What are the biochemical features of Familial Hypocalciuric Hypercalcaemia?

A

Mild hypercalcaemia, reduced urine calcium excretion, PTH may be elevated

31
Q

What are the signs and symptoms of hypocalcaemia?

A

Paraesthesia-fingers, toes, perioral, muscle cramps, tetany, muscle weakness, fatigue, bronchospasm/laryngospasm, fits, chovsteks sign (tapping over facial nerve), trousseau sign (carpopedal spasm), QT prolongation

32
Q

What are the possible causes of hypocalcaemia?

A

Hypoparathyroidism, vitamin D deficiency (osteomalacia, rickets), chronic renal failure

33
Q

What is the treatment for acute hypocalcaemia?

A

Emergency: IV calcium gluconate 10ml,10% over 10 mins (in 50ml saline or dextrose), infusion (10ml 10% in 100ml infusate, at 50ml/h)

34
Q

What are some causes of hypoparathyroidism?

A

Congenital absence (DiGeorge syndrome), destruction (surgery, radiotherapy, malign), AI, hypomagnesaemia, idiopathic

35
Q

What is the long term management of hypoparathyroidism?

A

Calcium supplement, vitamin D replacement

36
Q

What is calcium release from cells dependent on?

A

Magnesium

37
Q

Is intracellular calcium low or high in magnesium deficiency?

A

High

38
Q

What changes to PTH sensitivity and release occur during hypomagnasaemia?

A

PTH release is inhibited, and skeletal and muscle receptors are less sensitive to PTH

39
Q

What are some of the causes of hypomagnasaemia?

A

Alcohol, drugs-thiazide, PPI, GI illness, pancreatitis, malabsorption

40
Q

What is pseudohypoparathyroidism?

A

Low calcium but PTH concentrations are elevated due to PTH resistance

41
Q

What is the genetic defect in pseudohypoparathyroidism?

A

Dysfunction of G protein (Gs alpha subunit) gene-GNAS 1

42
Q

How does pseudohypoparathyroidism present?

A

Bone abnormalities (McCune Albright), obesity, subcut calcification, learning disability, brachdactyly (4th MCP)

43
Q

What is pseudo-pseudohypoparathyroidism?

A

Like pseudohypoparathyroidism, but with normal calcium

44
Q

What is rickets and osteomalacia caused by?

A

Vit D deficiency due to malabsorption (gastric surgery, coeliac, liver disease, pancreatic failure), chronic renal failure, lack of sunlight, drugs e.g. anticonvulsants

45
Q

How does osteomalacia present?

A

Low calcium, muscle wasting-proximal myopathy, dental defects (caries, enamel), bone-tenderness, fractures, rib deformity, limb deformity

46
Q

What are looser zones?

A

Wide, transverse lucencies traversing part way through a bone, usually at right angles to the involved cortex and are associated most frequently with osteomalacia and rickets

47
Q

What is often seen in patients with chronic kidney disease?

A

Secondary hyperparathyroidism

48
Q

How will osteomalacia due to lack of UV exposure present?

A

Low calcium, low phosphate, high ALP, low vit D (25-OH), PTH-high

49
Q

What are long term consequences of vitamin D deficiency?

A

Demineralisation/fractures, osteomalacia/rickets, malignancy (especially colon), heart disease, diabetes etc.

50
Q

What is the treatment for chronic vitamin D deficiency?

A

Vit D tablets, or combined calcium + Vit D

51
Q

What is vitamin D-resistant rickets also known as?

A

X-linked hypophosphataemia

52
Q

What gene is mutated in vitamin D-resistant rickets?

A

PHEX gene mutation

53
Q

How do people with vitamin D-resistant rickets present?

A

Low phosphate, high vitamin D

54
Q

How is vitamin D-resistant rickets treated?

A

With phosphate and Vit D supplements (1,25-OH Vit D3) +/- Surgery

Endocrine (14 decks)

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