Endocrinology

Question 1

What is Bartter’s syndrome?

Answer 1

An inherited form of severe hypokalaemia

Question 2

What is the underlying fault found in Bartter’s syndrome?

Answer 2

Dysfunction of the Na-K-2Cl-cotransporter (NKCC2) of the ascending Loop of Henle

Question 3

What is the inheritance pattern of Bartter’s syndrome?

Answer 3

Usually autosomal recessive

Question 4

What clinical features are associated with Bartter’s syndrome? (5)

Answer 4

1) Failure to thrive
2) Polyuria/Polydypsia
3) Hypokalaemia
4) Normotension
5) Weakness

Question 5

What is the inheritance pattern of Multiple Endocrine Neoplasia?

Answer 5

Autosomal dominant

Question 6

What conditions are associated with MEN Type 1? (5)

Answer 6

1) HyperParathyroidism secondary to hyperplasia
2) Pituitary lesions
3) Pancreas lesions (Insulinoma, Gastrinoma)
4) Adrenal
5) Thyroid

Question 7

What conditions are associated with MEN Type 2?

Answer 7

1) Phaeochromocytoma
2) Parathyroid lesions
3) Medullary thyroid Ca (70%)

Question 8

What conditions are associated with MEN Type 3?

Answer 8

1) Phaeochromocytoma
2) Marfanoid body habitus
3) Neuromas

Question 9

What gene is implicated in MEN Type ?

Answer 9

MEN1 gene

Question 10

What gene is implicated in MEN Type 2?

Answer 10

RET oncogene

Question 11

What gene is implicated in MEN Type 3?

Answer 11

RET oncogene

Question 12

What are the causes of primary hyperparathyroidism? (4)

Answer 12

1) Solitary parathyroid adenoma (85%)
2) Parathyroid hyperplasia (10%)
3) Multiple parathyroid adenomas (4%)
4) Parathyroid carcinoma (1%)

Question 13

What conditions are associated with primary hyperparathyroidism? (2)

Answer 13

1) HTN
2) MEN Type I and II

Question 14

What are the typical blood results of a patient presenting with primary hyperparathyroidism?

Answer 14

1) High Ca
2) Low PO4
3) Either normal or high PTH

Question 15

What radiological features are associated with primary hyperparathyroidism? (2)

Answer 15

1) Pepperpot skull
2) Osteitis fibrosa cystica

Question 16

What is the definitive treatment of primary hyperparathyroidism?

Answer 16

Total parathyroidectomy

Question 17

In what group of patients can conservative management of primary hyperparathyroidism be considered?

Answer 17

Patient aged >50 w/ Ca <0.25 above upper threshold, and has no end organ damage

Question 18

What medical management can be implemented for patients with primary hyperparathyroidism when surgery is not an option?

Answer 18

Cinecalcet (allosteric activation of Ca-sensing receptor)

Question 19

In what two settings would you expect to see carcinoid syndrome?

Answer 19

1) Metastasis of neuroendocrine tumour to the liver, causing release of Serotonin into the systemic circulation

2) Mediators from lung neuroendocrine tumours not being cleared by the liver, thus entering the systemic circulation

Question 20

What clinical features are associated with Carcinoid syndrome? (7)

Answer 20

1) Flushing (usually first presenting symptom)
2) Diarrhoea
3) Bronchospasm
4) Hypotension
5) R heart valvular stenosis (although L heart valves can be affected in bronchial tumours)
6) Pellagra, due to dietary tryptophan being converted to Serotonin rather than Niacin
7) Cushing’s syndrome secondary to secretion of ACTH/GHRH

Question 21

What investigations are needed to assess for carcinoid syndrome?

Answer 21

Urinary 50HIAA

Plasma chromogranin Ag

Question 22

What is the pharmacological treatment for carcinoid syndrome?

Answer 22

Somatostatin analogues, such as Octreotide