MRCP Part 1 Endocrinology best of five

Low dose dexamethasone suppression test This patient is likely to have Cushings syndrome and thus urinary cortisol and low dose dexamethasone should be performed in the first instance to

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PREFACE

This is the first edition of MRCP Part 1 Endocrinology best of five that I have had the honor of working on MRCP

Part 1 Endocrinology best of five is a part of a huge work include all sections of internal medicine Endocrinology,

Gastroenterology, Cardiology, Infectious Diseases and GUM, Respiratory medicine, Rheumatology, Dermatology,

Nephrology, Psychiatry, Ophthalmology, Neurology, Clinical hematology, Clinical Pharmacology, Therapeutics and

Toxicology and oncology, Geriatric medicine and Clinical sciences witch include Cell, molecular and membrane

biology, Clinical anatomy, Clinical biochemistry and metabolism, Clinical physiology, Genetics, Statistics,

epidemiology and evidence-based medicine and Immunology

The care of patients is a privilege As physicians, we owe it to our patients to be intelligent, contemporary, and

curious Continuing education takes many forms; many of us enjoy the intellectual stimulation and active learning

challenge of the question-answer format It is in that spirit that I offer the 1st edition of the MRCP Part 1

Endocrinology best of five to students, house staff, and practitioners I hope that from it you will learn, read,

investigate, and question The questions and answers are particularly conducive to collaboration and discussion with

colleagues This edition contains over 183 questions that, whenever possible, utilize realistic patient scenarios

including radiographic or pathologic images Similarly, the answers attempt to explain the correct or best choice

“We are here to add what we can to life, not to get what we can from life.” We hope this addition to your life

stimulates your mind, challenges your thinking, and translates to your patients

I would like to thank all my friends and members of my group that participate effectively in producing this work It

is truly inspirational to remind ourselves why we love medicine broadly, and internal medicine specifically

Of course, none of this would be possible without the loving support of our families, for which we are truly thankful

They were patient and encouraging as we transformed (often not quietly) a mountain of page proofs into this book

Endocrinology

A 30 year old female who o0ne year ago gave birth and suffered from post partum haemorrhage

presents to her GP with fatigue She has also noticed her periods have not returned, constipation,

change in her hair and nails She also feels dizzy when she is standing On examination she looks pale,

there is a postural drop in blood pressure and she has slowed tendon reflexes Bloods reveal a glucose of

3.9 and a normochromic normocytic anaemia What is the most likely diagnosis?

This patient is showing features of FHS/LH deficiency with amenorrhoea as after one year postpartum

you would expect periods to have returned She is also showing features of hypothyroidism (hail and

nail changes, slowed reflexes) and of ACTH deficiency (pallor (ACTH stimulates melanocytes) and

postural drop ) The history of postpartum haemorrhage is significant as this may have lead to Sheehans

syndrome and thus hypopituitarism The other options only explain some symptoms and do not account

for all symptoms on their own

This patient has 2 features of Multiple endocrine neoplasia 1 (MEN 1), parathyroid hyperplasia and a

pituitary adenoma i.e prolactinoma and therefore is at increased risk of pancreatic endocrine tumours

Endocrinology

A 25 year old female presents with diarrhoea for approximately one month She describes this as watery

with no evidence of blood or mucous She does not complain of abdominal pain, vomiting or any other

symptoms She has not had anything unusual to eat and no one else is suffering from these symptoms

On examination she has decreased skin turgor, has a heart rate of 100 and looks dehydrated Her bloods

reveal hypokalaemia What is the most likely diagnosis?

A Zollinger Ellison syndrome

B Phaeochromocytoma

C Ulcerative Colitis

D Gastroenteritis

E VIPoma

The most likely diagnosis is VIPoma VIPomas are neuroendocrine tumours which secrete vasoactive

intestinal polypeptide and the majority arise in the pancreas VIP is a stimulator of cAMP and in the gut

this leads to massive secretion of water and electrolytes (can be up to 3 litres per day) especially

potassium and thus leads to profuse watery diarrhoea, hypokalaemia and dehydration Acidosis can also

occur due to loss of bicarbonate as well as potassium 60 to 80% are malignant and metastasis

Gastroenteritis is unlikely here as it is not indicated in the history and there is no vomiting or abdominal

pain Zollinger Ellison can lead to watery diarrhoea however you expect features of peptic ulcer disease

UC is unlikely as it tends to lead to bloody diarrhoea

Endocrinology

A 50 year old male presents with weight gain mainly around the face and trunk He has also noticed his

arms and legs feeling weak especially when trying to get up from a seat He has noticed he is easily

bruising and there is evidence of striae He is found to be hypertensive and hypokalaemic Which

investigation should be performed initially?

A Urinary catecholamines

B High dose dexamethasone

C CT Head and abdomen

D ACTH measurement

E Low dose dexamethasone suppression test

This patient is likely to have Cushings syndrome and thus urinary cortisol and low dose dexamethasone

should be performed in the first instance to confirm this is the case High dose dexamethasone and

ACTH measurement provide further information about the likely underlying cause as in whether is is

is useful If not an MRI of the pituitary should be performed to assess if there is an adenoma and thus

Cushings disease

Endocrinology

Which of the following is not a feature of Metabolic Syndrome?

A Elevated fasting glucose

B Elevated triglycerides

C Elevated HDL

D Central obesity

E Hypertension

Metabolic syndrome is the whereby there is a clustering of cardiovascular risk factors and is related to

insulin resistance It leads to all of the above except increased HDL level as actually there is a reduction

in this

Endocrinology

Which drug, in addition to his metformin and gliclazide, should be given to a patient with type 2

Diabetes Mellitus with a high urinary albumin excretion?

ACE Inhibitors have been shown to reduce the progression of microalbuminuria to diabetic nephropathy

and thus should be utilised Losartan is an angiotensin receptor II blocker and should only be utilised if

an ACE Inhibitors is not tolerated Obviously good control of diabetes is also important

Endocrinology

For a glucose tolerance test how much glucose is used?

A patient with type 2 diabetes mellitus has been trying to control their cholesterol with an improved

diet, however his repeat bloods reveal an LDL of 5.0 mmol/L How do you manage this?

Cholesterol in a patient with diabetes should be less than 4.5 and thus a statin should be utilised As well

as lowering cholesterol it has additional pleiotropic benefits and reduced cardiovascular morbidity and

mortality Fibrates are more useful in hypertriglyceridaemia Ezetimibe can be used in addition if statins

are not reducing cholesterol and main be used as a monotherapy if a statin is not tolerated

E

Endocrinology

An 18 year old presents with amenorrhoea for the last 6 months She is asymptomatic otherwise She

exercises excessively and appears underweight with a BMI of 14 What is the most likely diagnosis?

Given the BMI of this patient, excessive exercise and the only symptom being amenorrhoea, the most

likely diagnosis is anorexia nervosa Primary ovarian failure would lead to the patient failing to have her

first period In hypothyroidism, Coeliac disease and type 1 diabetes mellitus you would expect there to

be other symptoms evident

Endocrinology

A 54 year old gentleman who is a smoker presents with a dry cough and weight loss He is also

constipated with some abdominal pain has urinary frequency and is feeling fatigued and depressed He

is found to have a calcium of 3.0 mmol/l What is the most likely diagnosis?

This patient has hypercalcaemia Although all of the options can result in hypercalcaemia, the history is

suspicious of a lung cancer and thus the hypercalcaemia is most likely secondary to PTH like peptide

secretion and thus hypercalcaemia

Endocrinology

When investigating Hyperthyroidism, which investigation should be performed to confirm the

underlying diagnosis of Graves disease?

A Raised T3 levels

B Raised CRP and ESR

C Ultrasound of neck

D Low TSH levels and high T4 levels

E Thyroid peroxidase and thyroglobulin autoantibodies

Thyroid peroxidase and thyroglobulin autoantibodies are present in Graves disease and are not evident

in the other causes of hyperthyroidism They are also evident in Hashimotos but obviously the signs and

symptoms are of hypothyroidism rather that hyperthyroidism An US of the neck is not definitive of the

cause (although may show nodularity) but a radioisotope uptake scan may aid as it will show increased

uptake in Graves disease The low TSH and high T4 is seen in the majority of cases of hyperthyroidism

Diarrhoea is a feature of Carcinoid syndrome The rest are all features of a phaeochromocytoma and

indeed if a young person presents with uncontrolled hypertension and any of these features then it

should be suspected

Endocrinology

A 24 year old male who is known to have Addisons disease has been unwell with the flu He is brought

to A and E as he has been found collapsed His BM is 3.9 How would you manage this patient initially?

A IV fluid resuscitation and IV steroids

B IV dextrose

C IV hydrocortisone

D IV fluids

E Dopamine

This patient is having an adrenal crisis, most likely triggered by his recent viral illness and not increasing

his steroid dose IV fluid resuscitation is required due to the loss of mineralocorticoid there is most likely

been loss of fluids IV hydrocortisone is essential in the management and should not be delayed

Inotropes such as dopamine should only be utilised if this fails and hypotension remains IV dextrose will

be required for hypoglycaemia however is not useful on its own for fluid resuscitation

Endocrinology

How would you investigate a patient in the first instance if you suspected Addisons disease?

A Low dose dexamethasone suppression test

B ACTH level

C High dose dexamethasone test

D Short synacthen test

E Urinary cortisol

Low dose and high dose dexamethasone suppression test and urinary cortisol are utilised in the

diagnosis of Cushings disease A short synacthen test should be utilised for the diagnosis as it will show a

failure of cortisol to rise with a synthetic ACTH ACTH levels will help differentiate between primary and

secondary adrenal failure

Although cough and bowel habit change may suggest an underlying malignancy, hyperpigmentation is

much more useful ACTH stimulates melanocytes and thus leads to hyperpigmentation

Hyperpigmentation also occurs in Addison due to the lack of negative feedback and subsequent increase

in ACTH levels

Endocrinology

A patient who has confirmed Cushings disease following a low dose dexamethasone suppression test, is

found to have an incomplete response to a high dose dexamethasone suppression test but shows an

increased cortisol level following administration of corticotropin releasing hormone What is the most

likely definitive diagnosis?

A Ectopic ACTH secretion

B Exogenous steroids

C Conns syndrome

D Cushings disease

E Adrenal adenoma

The most likely diagnosis is Cushings disease whereby there is a pituitary adenoma which secretes ACTH

It responds partially to high dose dexamethasone suppression test and also responds to CRH test

whereas in ectopic secretion there is no response to either of these tests Similarly an adrenal adenoma

would show no response

Endocrinology

A patient is diagnosed with a microadenoma which has lead to acromegaly How should this patient be

managed?

Transsphenoidal surgery with removal of the microadenomas is usually the first line of management If

this fails then radiotherapy can be utilised but this is usually in conjunction with hormonal therapy

Dopamine agonists such as bromocriptine were previously utilised however they have been superseded

by somatostatin analogues such as octreotide and more recently growth hormone antagonists such as

Initially in the diagnosis an IGF1 level should be taken and if this is raised then the diagnostic glucose

tolerance test should be arranged In a glucose tolerance test the patient fail to suppress there growth

hormone levels An MRI of pituitary will be required for the location of the tumour however should not

be used for the initial diagnosis

Endocrinology

How should a male with hypogonadotrophic hypogonadism be managed?

A IM testosterone plus GnRH when fertility required

B Nil

C Oral testosterone plus GnRH when fertility required

D Gonadotrophins

E GnRH analogues

Testosterone IM should be utilised s oral has a poorer and variable absorption When fertility is required

GnRH or gonadotrophins should be utilised

The management of GnRH deficiency includes replacing sex steroids to develop secondary sex

characteristics, and to build and sustain normal bone and muscle mass Pulsatile GnRH and exogenous

gonadotropin therapy are used for ovulation induction in women and for induction of spermatogenesis

in men

D Increased lean body mass

E Reduced risk of diabetes

Growth hormone replacement leads to an increased lean body mass and decreased fat and it is this side

effect which makes it attractive to some athletes

Endocrinology

Which of the following suggests primary hyperparathyroidism as the cause of hypercalcaemia?

A High phosphate levels

B Normal to high PTH levels

C Elevated urinary calcium

D Renal calculi

E Xray showing mix of sclerotic and lytic lesions

In hyperparathyroidism there is either a high normal or high level of PTH whereas in other causes of

hypercalcaemia the PTH levels are low The pathognomonic Xray reveals subperiosteal resorption in the

phalanges and salt and pepper changes in the skull It would lead to low phosphate levels Elevated

urinary calcium can occur however is not specific and occurs in many causes of hypercalcaemia Similarly

renal calculi are not specific and occur in many causes of hypercalcaemia

PTH acts mainly on 2 organs: the bone and the kidney

It stimulates the osteoclasts and causes bone resorption, resulting in an increase in the serum

concentration of calcium and phosphorus

PTH stimulates the 1-α hydroxylase activity in the kidney, resulting in an increase in 1,25

dihydroxyvitamin D production It also increases the reabsorption of calcium in the distal renal tubules,

decreasing calcium clearance The effect on phosphorus clearance is the opposite PTH can decrease the

reabsorption of phosphorus in the proximal renal tubules from 85% in healthy individuals to less than

15% in dialysis patients.[4]

Of note, PTH has no direct established activity on the intestine However, it indirectly increases

intestinal calcium and phosphorus absorption via stimulation of 1,25 dihydroxyvitamin D production

The results of high PTH are hypercalcemia, hypophosphatemia, and high urinary calcium and

phosphorus

Calcium has a negative feedback effect on the parathyroid glands through the calcium sensing

receptor.[5] Recently, phosphorus has been shown to have a direct stimulatory effect on the

Which of the following suggests SIADH?

A Urine osmolality of 500 mOsm/kg and plasma osmolality of 260 mOsm/kg

B Urinary sodium of 20 mmol/L

C Urine osmolality of 50 mOsm/kg and plasma osmolality of 260 mOsm/kg

D Sodium of 125 mmol/l

E Urine osmolality of 50 mOsm/kg and plasma osmolality of 280 mOsm/kg

SIADH leads to a fall in plasma osmolality, an inappropriately concentrated urine (with osmolality

greater than the serum osmolality), euvolemia and a urinary sodium of greater than 40 mmol/L Other

causes should be ruled out such as Addisons disease or renal failure

Hyponatremia is initially mediated by ADH-induced water retention

The ensuing volume expansion activates secondary natriuretic mechanisms, resulting in sodium and

water loss and the restoration of near euvolemia The net effect is that, with chronic SIADH, sodium loss

is more prominent than water retention [3] However, since there is no impairment in volume

regulatory hormones (aldosterone and natriuretic peptides), patients with SIADH are euvolemic unless

there is a second problem leading to salt loss (eg, vomiting, diarrhea, or diuretic therapy)

Hyponatremia may also be associated with potassium loss Since potassium is as osmotically active as

sodium, the loss of potassium contributes to the reductions in plasma osmolality and sodium

A 68 year old male with type 2 diabetes mellitus, for which he takes metformin, has been unwell for the

last few days He has now been brought to A and E as he is drowsy and confused His bloods reveal a

ARF, glucose of 9 mmol/l and a metabolic acidosis with a high anion gap How would you manage this

E Insulin sliding scale

This patient is likely to have lactic acidosis (given the raised anion gap) which may have been caused by

metformin and renal impairment, as metformin is much more likely to lead to lactic acidosis when there

is renal impairment When a typ2 diabetic presents like this then hyperosmolar hyperglycaemia should

be suspected however the glucose precludes this as a diagnosis IV fluid resuscitation is essential and

sodium bicarbonate should only be given in very specialist settings and as a last resort

Endocrinology

An 18 year old female present with symptoms of hypothyroidism She has a short stature, webbed neck

and has not yet commenced menstruation Karyotyping is performed and reveals 45 X0 What is the

most likely diagnosis?

This patient displays features of Turners syndrome and the karyotyping is diagnostic There is numerous

cardiovascular, genitourinary abnormalities and gonadal failure In about one third there is

hypothyroidism Noonans syndrome present similarly but the karyotype is not 45 X0

Endocrinology

A patient presents with a hard, fixed , painless woody goitre She is having some difficulty with

swallowing She is otherwise asymptomatic A thyroid ultrasound is performed and reveals a

homogeneously hypoechoic gland She is euthyroid A biopsy is organised reveals dense infiltration

What is the most likely diagnosis?

A woody goitre is characteristic of Riedels thyroiditis and is leads to fibrous infiltration of the thyroid

gland In one third the patient is hypothyroid but the majority are euthyroid It is differentiated from

other causes due to the biopsy and ultrasound findings

Endocrinology

A 28 year old female presents with weight loss, palpitations, heat intolerance and anxiety She is a

health fanatic and takes supplements including kelp Her bloods reveal a TSH which is very low and there

is no evidence of autoantibodies What is the likely cause of the picture seen here?

A Excessive iodine ingestion

A 25 year old male who appears to have Marfans syndrome presents with headache, anxiety, weight

loss and palpitations He is found to be hypertensive He also has a swelling in his neck There is some

evidence of neuromas A 24 hour urinary catecholamine confirms phaeochromocytoma What is the

most likely underlying diagnosis?

This patient is presenting with feature of MEN type 2b which is characterised by a marfanoid

appearance, neuromas, medullary thyroid cancer (as represented by the goitre in this example), and

phaeochromocytoma In MEN 2a there is usually parathyroid hyperplasia and usually no evidence of

neuroma or marfanoid body MEN type 1 is characterised by pancreatic neuroendocrine tumours,

pituitary adenoma and parathyroid hyperplasia

Endocrinology

A 38 year old female has difficult to control hypertension She has intermittently suffered from

headaches and anxiety She is due to undergo abdominal surgery Given the underlying diagnosis, which

treatment should be performed before her surgery?

A Introduction of an irreversible alpha blocker

B IV fluid administration

C Increase dosage of antihypertensives

D Introduction of a beta blocker

E Nil required

This patient is likely to have an undiagnosed Phaeochromocytoma The administration of irreversible

alpha blockers must be done prior to surgery as mobilisation or manipulation of the tumour can lead to

a massive surge in catecholamine release and lead to malignant hypertension

Endocrinology

A 28 year old pharmacist is brought to A and E after feeling very anxious and sweaty and appearing

confused Her BM was measured and was 2.8 A formal lab glucose revealed a glucose of 2.5, high

insulin level and virtually undetectable Cpeptide What is the most likely diagnosis?

This patient is a pharmacist and does have access to insulin The key finding which suggests factitious

insulin induced hypoglycaemia is the undetectable levels of Cpeptide Cpeptide is secreted normally

form the pancreas with insulin and would therefore be elevated in insulinoma If Cpeptide levels are low

then this suggests synthetic insulin has been injected as in this case

Endocrinology

What investigation gives a definitive diagnosis of acromegaly?

A Glucose tolerance test

B IGF1 levels

C Growth hormone levels

D Low dose dexamethasone suppression test

The definitive diagnosis of acromegaly is via the glucose tolerance test where there is failure to suppress

the growth hormone levels to an appropriate level IGF1 is utilised as an initial screening test as there

levels will be elevated Growth hormone levels are not useful as there are surges in normal patient

throughout the day Low dose dexamethasone suppression tests are utilised for the diagnosis of

Cushings disease

Endocrinology

A 68 year old male has been suffering from a cough productive of green sputum and shortness of breath

He is brought to A and E drowsy and confused He is found to have a sodium of 115 mmol/L, normal

renal function, with a plasma osmolality of 260 mOsmol/kg and urine osmolality of 500 mOsm/kg and

urinary sodium of 145 mmol/L What is the most likely cause of the hyponatraemia?

Pneumonia can lead to an SIADH SIADH is characterised by the findings of increased urinary sodium

greater than 40mmol/l, reduced plasma osmolality and increased urine osmolality above that of the

serum The patient must be euvolaemic and have normal adrenal and thyroid function

Endocrinology

What is the mechanism of action of bisphosphonates?

A Inhibits HMG CoA, stimulating osteoblasts activity

B Inhibits farnesyl pyrophosphate synthase, stimulating osteoclasts activity

C Inhibits HMG CoA reductase, inhibiting osteoclasts activity

D Inhibits farnesyl pyrophosphate synthase, inhibiting osteoclasts activity

E Inhibits farnesyl pyrophosphate synthase, stimulating osteoblasts activity

Nitrogen containing bisphosphonates bind to mineralized bone and are taken up by osteoclasts where

they inhibit farnesyl pyrophosphate part of the mevalonate pathway for cholesterol production and

result in osteoclastic apoptosis HMG CoA reductase is inhibited by statins

Endocrinology

What test is most sensitive for carcinoid syndrome?

Plasma chromogranin A is very sensitive but not very specific whilst Urinary 5 HIAA is less sensitive

but very specific

Endocrinology

A 28 year old pharmacist is brought to A and E after feeling very anxious and sweaty and appearing

confused Her BM was measured and was 2.8 A formal lab glucose revealed a glucose of 2.5, high

insulin level and virtually undetectable Cpeptide What is the most likely diagnosis?

This patient is a pharmacist and does have access to insulin The key finding which suggests factitious

insulin induced hypoglycaemia is the undetectable levels of Cpeptide Cpeptide is secreted normally

form the pancreas with insulin and would therefore be elevated in insulinoma If Cpeptide levels are low

then this suggests synthetic insulin has been injected as in this case

Endocrinology

A 68 year old male has been suffering from a cough productive of green sputum and shortness of breath

He is brought to A and E drowsy and confused He is found to have a sodium of 115 mmol/L, normal

renal function, with a plasma osmolality of 260 mOsmol/kg and urine osmolality of 500 mOsm/kg and

urinary sodium of 145 mmol/L What is the most likely cause of the hyponatraemia?

Pneumonia can lead to an SIADH SIADH is characterised by the findings of increased urinary sodium

greater than 40mmol/l, reduced plasma osmolality and increased urine osmolality above that of the

serum The patient must be euvolaemic and have normal adrenal and thyroid function

Endocrinology

What is the mechanism of action of bisphosphonates?

A Inhibits farnesyl pyrophosphate synthase, stimulating osteoclasts activity

B Inhibits HMG CoA, stimulating osteoblasts activity

C Inhibits HMG CoA reductase, inhibiting osteoclasts activity

D Inhibits farnesyl pyrophosphate synthase, inhibiting osteoclasts activity

E Inhibits farnesyl pyrophosphate synthase, stimulating osteoblasts activity

Nitrogen containing bisphosphonates bind to mineralized bone and are taken up by osteoclasts where

they inhibit farnesyl pyrophosphate part of the mevalonate pathway for cholesterol production and

result in osteoclastic apoptosis HMG CoA reductase is inhibited by statins

Endocrinology

A patient is found to have a cholesterol of 12 mmol/L He notes that his mother and grandmother had

problems with high cholesterol He is thought to have familial hypercholesterolaemia Which of the

following features is highly suggestive of this?

A Tendon Xanthomata

B Xanthelasmata palpebrarum

C Xanthelasma

D Elevated triglycerides

E Premature corneal arcus

Familial hypercholesterolaemia is an autosomal dominant condition A common mutation is that of LDL

receptors on chromosome 1 and mutations of apo B 100 Tendon xanthomata is a hallmark of the

disease and is highly suggestive of it There is elevated LDL but triglycerides are normal The other

options are not specific to familial hypercholesterolaemia and can occur in any cause of high cholesterol

By age 50 there is a greater than 50% risk of coronary heart disease in men and 30% in females by age

60

Endocrinology

A 70 year old male with long standing diabetes presents with severe pain in his left thigh On

examination there is marked wasting of his quadriceps on the left side and loss of knee reflex What is

most useful for the management?

A Good glycaemic control

B Gabapentin

C B12 supplementation

A 30 year old female has not had a period for several months She has noticed that she has put on wait,

has been depressed and constipated and has noticed changes in her skin and hair Given the most likely

cause of amenorrhoea, which of the following would you expect to observe on bloods?

A Elevated testosterone

B Hyperprolactinaemia

C Elevated LH

D Low oestradiol

E Elevated FSH

Given the symptoms the most likely cause of amenorrhoea is hypothyroidism Due to the low free T4

this leads to increased TRH which also raises prolactin levels and thus can lead to amenorrhoea

E Elevated FSH and LH levels and low oestrogen

Premature ovarian failure is poorly understood but may be an autoimmune condition It leads to

elevated FSH and LH and low oestrogen levels

Endocrinology

A 60 year old presents with tiredness, depression, polyuria, polydipsia and constipation He is found to

have a calcium of 3.0mmol His phosphate level is low and alkaline phosphatase high Urinary calcium

excretion is also elevated What is the most likely diagnosis?

A Sarcoidosis

B Myeloma

C Metastases

D Primary hyperparathyroidism

E Familial Hypocalciuric Hypercalcaemia

The most likely diagnosis is hyperparathyroidism This leads to elevate calcium, low phosphate,

increased alkaline phosphatase and increased urinary calcium excretion In sarcoidosis, myeloma and

metastases you would not expect to find a low phosphate and in familial hypocalciuric hypercalcaemia

you would expect to see a low urinary calcium excretion

Endocrinology

A 2 year old is brought to his GP His parents have noticed he is very small for his age He has only just

begun to walk and is not keen to He complains of pain when he is walking On examination there is

evidence of frontal bossing of the skull and bowing of the legs Bloods reveal a slightly low calcium, low

phosphate and high alkaline phosphatase There is increased urinary phosphate What is the most likely

diagnosis?

A Osteomalacia

B Vitamin D resistant rickets type 2

C Vitamin D resistant rickets type 1

D X linked recessive hypophosphataemic rickets

E X linked dominant hypophosphataemic rickets

This child shows features of rickets and growth retardation, with evidence of low serum phosphate and

high urinary phosphate which is suggestive of x linked hypophosphataemic rickets It is due to a

mutation in PHEX which leads to abnormal phosphate handling X linked recessive forms are very rare It

is treated with phosphate supplementation and 1,25 hydroxylated vitamin D In vitamin D resistant

rickets both type I and II you would not expect a high urinary phosphate and vitamin D levels would be

normal

Endocrinology

A 26 year old female presents to her GP with fatigue This has been a problem now for several months

since she had viral illness Her exercise tolerance has greatly decreased and she feels very fatigued

following any exertion She has intermittently been suffering from headaches and is sleeping about 12

hours a day but still feels unrefreshed She also complains of back pain with no clear preciptating factor,

Examination and blood tests are normal Given the most likely diagnosis, which of the following

treatments is most likely to be useful?

A Graded exercise therapy

B Corticosteroids

C Thyroxine

D Iron supplementation

E Nil specific

The presentation is indicative of CFS It predominantly affects females There is some suggestion it may

follow a viral illness thus be a viral cause however some patients do not have a clear history of a viral

illness It is a diagnosis of exclusion and all other causes must be excluded Some of the typical features

are persistent fatigue, unrefreshing sleep and post exertional malaise Graded exercise therapy and

cognitive behavioural therapy are key in the management

Endocrinology

Glycosylated haemoglobin reflects control of diabetes over the previous:

A 20 year old female presents as she has never started her periods On examination you notice she is

short in stature, has a webbed neck and widely spaced nipples She has a low hairline and low set ears

Bloods reveal elevated FSH and LH levels and low oestrogen levels What is the most likely diagnosis?

A Pituitary disease

B Weight loss

C Hypothyroidism

D Pregnancy

E Premature ovarian failure

This patient is showing signs of Turners syndrome Premature ovarian failure is poorly understood but

may be an autoimmune condition It is a feature of Turners syndrome and can occur before the age of

menarche and lead to primary amenorrhea It leads to elevated FSH and LH and low oestrogen levels In

weight loss you would expect a low FSH and LH The other diagnoses do not explain the signs or the

blood results

Endocrinology

A patient who is 16 weeks pregnant and has a BMI of 35, is found to have a fasting glucose of 6.0

mmol/L What is the next course of action?

A Repeat fasting glucose at 28 weeks

B Dip urine to ensure no ketones

C Glucose tolerance test at 28 weeks

D Nil required as diabetes is excluded

E Glucose tolerance test

In a patient with a high BMI and evidence of impaired glucose tolerance as evidenced by a fasting

glucose at 6.0 mmol/L then a glucose tolerance test should be performed as the patient is at high risk of

gestational diabetes Although a fasting glucose of >7.0 mmol/L or a random glucose 11.1mmol/L is

indicative, if there is evidence of impaired glucose tolerance and other risk factors fasting glucose levels

of lower than this should not exclude the diagnosis A 75g oral glucose tolerance test should be

performed and if >7.8mml/L confirms the diagnosis of impaired glucose tolerance and gestational

diabetes

Endocrinology

A 19 year old female presents with irregular periods to her GP You notice she is overweight and has

acne She admits that she has to regularly bleach her upper lip hair and has a line of hair from her

umbilicus to her pubic hair which she is embarassed about Her bloods reveal an elevated LH:FSH ratio

and testosterone is at the high end of normal and sex hormone binding globulin is low Her fasting

glucose is 6.2 Which of the following would be most useful in the treatment?

A Metformin

B Clomiphene

C Progesterone only pill

D Orlistat

E Combined oral contraceptive

PCOS is the most likely diagnosis It classically presents in overweight/obese patients with acne,

hirsutism, irregular menstruation and virilisation It is often assocaited with elevated LH, normal FSH and

therefore elevated LH:FSH ratio It leads to normal or slightly elevated testosterone and low sex

hormone binding globulin.Insulin resistance is thought to play a role in PCOS hence the elevated fasting

glucose Metformin is useful in this case as it has been shown to reduce androgen levels (thus improve

hirsutism and acne) and will also be useful as there is clear evidence of impaired glucose tolerance and

will improve the insulin resistance associated with PCOS It may also improve ovulatory function

Combined oral contraceptive is also useful but given the fasting glucose metformin would probably be

more beneficial

Endocrinology

Which of the following is most suggestive of an adrenal tumour as the cause of cushings syndrome?

A Increased urinary cortisol

B Increased ACTH

C Undetectable ACTH

D MRI of pituitary normal

E Increased CRH

An undetectable ACTH suggests that the cushings syndrome is ACTH independent and an adrenal

tumour is likely In cushings syndrome secondary to cushings disease, ectopic ACTH and ectopic CRH

secretion there is elevated ACTH levels High dose dexamethasone suppression test is utilised for

differentiating between cushings disease and ectopic ACTH Increased urinary cortisol is increased in all

causes

Endocrinology

A 27 year old with type 1 diabetes mellitus presents to A+E She has been unwell for the last couple of

days and has not been taking her insulin as she has not been eating She is alert and is now feeling much

better and is managing to eat and drink and is no longer vomiting, however there is ketones in her urine

Bloods reveal a glucose of 14 mmol/L, a bicarbonate of 13 mmol/L and a pH of 7.25 Which of the

following is the most appropriate management option?

A Admit - commence oral fluids and normal subcutaneous insulin dose

B Admit - commence IV fluids and normal subcutaneous insulin dose

C No admission required - Monitor for few hours to ensure eating and drinking and give normal

insulin dose then manage as outpatient

D Admit - commence oral fluids and IV insulin

E Admit - commence IV fluids and IV insulin

This patient meets the criteria for Diabetic Ketoacidosis However this is mild with a pH of >7.20 and

bicarbonate of >10 mmoll/l The patient is alert and is able to eat and drink with no severe intercurrent

illness Studies have shown that patients meeting this criteria may be successfully managed as an

outpatient

Endocrinology

A 72 year old male has been brought to A+E by his family as he has become increasingly drowsy over the

last few days He has type 2 diabetes mellitus and was commenced on antibiotics a few days ago for a