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42 Cards in this Set
- Front
- Back
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Growth hormone deficiency is noted in
1. Turner's syndrome 2. Constitutional short stature 3. Laron's syndrome 4. Sheehan's syndrome 5. Chronic renal failure |
Answer
Answer – 4. Sheehan’s syndrome |
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Which of the following is true of IGF-1 concentrations
1. concentrations are reduced in pregnancy 2. concentrations are elevated in hepatic cirrhosis 3. concentrations are usually elevated in adult growth hormone deficiency 4. concentrations are reduced in starvation 5. concentrations are elevated in diabetes mellitus Answer |
Answer – 4
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Primary hyperparathyroidism may occur in association with the following conditions
1. chronic renal failure 2. vitamin D deficiency 3. gastrinoma 4. autoimmune polyendocrine syndrome 5. Sjogren's syndrome Answer |
Answer 3- gastrinoma
May be part of MEN 1 |
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A 50-year-old man presents with a diagnosis of acromegaly but has normal visual fields.
Which of the following is the most appropriate treatment for this patient |
(AIIMS 2013)
1. bromocriptine 2. cabergoline 3. radiotherapy 4. somatostatin analogue therapy 5. trans-sphenoidal hypophysectomy Answer ? Answer 5 |
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A 60 year-old male with diet controlled type 2 diabetes mellitus is commenced on metformin due to deteriorating glycaemic control. Which of the following is true regarding metformin
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1. It often causes hypoglycemia
2. it is safe in patients with renal impairment 3. it may cause metabolic alkalosis 4. it is contraindicated in patients suffering a myocardial infarction 5. it does not require any functioning pancreatic islet cells for its action Answer ? Answer 4 – Debatable- but this is the answer |
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A 21 year old woman is known to suffer from anorexia nervosa. Which of the following metabolic disturbances would be a characteristic finding
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1. a decrease in cortisol levels
2. an increase in LH levels 3. hyperkalemia 4. impaired glucose tolerance 5. raised androgen levels ? Answer Endocrine features of anorexia nervosa Amenorrhea is seen Diabetes Reduced GnRH- reduced FSH and LH Hypertrichosis not hirusitsm Increase GH and cortisol- prolonged starvation DHEAS – reduced GH resistance- reduced IGF1 Sick euthyroid like picture- Reduced T3 |
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A 40-year-old female who has been prescribed thyroid replacement therapy has routine thyroid function tests. On examination she appeared clinically euthyroid with no abnormal findings. Her TFTs revealed:
TSH 3.2 mU/L (0. 35 - 5.0) Total T4 20 nmol/L (55 - 144) free T4 2.6 pmol/L (9 - 24) Total T3 2.5 nmol/L (0. 9 - 2.8) Which one of the following statements is correct |
1. Her thyroid hormone replacement is adequate
2. investigation of pituitary function is required 3. she has tertiary hypothyroidism 4. she has thyroiditis 5. she has sick euthyroid syndrome ? Answer – 1. |
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A previously fit 47 year old male presents with lower back pain from a vertebral collapse due to osteoporosis.
Which of the following investigations would be the most appropriate for this man |
1. estrogen concentration
2. prostate specific antigen concentration 3. prolactin concentration 4. testosterone concentration 5. thyroid function tests Answer ? Answer 4. |
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A 52 year old female presents with tiredness. There are no specific abnormalities noted on examination, but investigations reveal a T4 of 21.1 (NR 9.8 - 23), a T3 of 5.2 pmol/l (NR 3.3 - 5.5) and a TSH of 0.05 mU/l (NR 0.1 - 5 mU/l). Thyroid autoantibody titres are all undetectable. These results suggest a diagnosis of
1. De Quervain's thyroiditis 2. Sick euthyroid syndrome 3. Solitary tosic nodule 4. Grave's disease 5. Hashimoto's thyroiditis Answer |
Answer 3.
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A 30 year-old female presents with a one year history of galactorrhoea. She has being receiving treatment for hay fever, depression, obesity and dyspepsia. Her investigations reveal:
Full Blood Count normal Urea and electrolytes normal Prolactin 820 mU/L (< 360) free thyroxine (T4) 18.3 pmol/L (10-22) TSH concentration 2.1 mU/L (0.4 - 5) Which one of the following drugs is most likely to explain these findings |
1. astemizole
2. metoclopramide 3. paroxetine 4. ranitidine 5. sibutramine Answer ? Answer 2. |
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A 17 year old female is referred with a six month history of amenorrhoea and weight loss, for which no organic cause can be found. Which of the following features would support a diagnosis of anorexia nervosa
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1. delusions of poisoning
2. hypertrichosis 3. hypergonadotropic hypogonadism 4. delusions of being overweight 5. watery diarrhoea Answer ? Answer 4. |
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Which of the following concerning Diabetic retinopathy is correct
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1. is unusual in Type 2 diabetic patinets
2. Improved glycemic control is more effective than hypertensive control in reducing progression of disease 3. normal visual acuity is seen in proliferative retinopathy 4. progression may be reduced with statin therapy 5. soft exudates are a feature of background retinopathy Answer ? Answer 3. |
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A 29 year old female presents with a one year history of irregular periods, deteriorating hirsutism and weight
gain. Investigations reveal: Serum testosterone 4 mmol/L (0.5-3) Serum dehydroepiandosterone sulphate(DHEAS) 15 umol/L(0.3-9.3) Which one of the following statements is most probable for this patient 1)Pituitary gonadotrophins are likely to become suppressed. 2)She is likely to develop acanthosis nigricans. 3)She has an increased risk of multiple pregnancies. 4)She is at increased risk of autoimmune disease. 5)She is at increased risk of ovarian carcinoma |
Answer 2)
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A 55 year old male presents with anorexia and weight loss of 12 months duration. Over this year he has had two
deep vein thromboses and had the last whilst his INR was 2. He remains on long-term warfarin therapy with an INR above 2.6. Examination reveals that he is pigmented and has a postural drop in his blood pressure of 15 mmHg. Investigations are as follows: sodium concentration 131 mmol/l potassium 5.0 mmol/l INR 3.0 A Short synacthen test reveals a baseline cortisol concentration at time 0 of 120 nmol/l which rises to 155 nmol/l after 30 minutes (Normal response >550 nmol/l). Which single diagnosis would explain this patient's illness 1)Addison's disease 2)Anti-phospholipid syndrome 3)Autoimmune Polyendocrine Syndrome (Schmidt's disease) 4)Protein S deficiency 5)Pituitary infarction |
Answer – 2)
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A 55 year old man presents with ataxia and bilateral gynaecomastia. Which of the following is the most likely diagnosis
1)Kleinfelters Syndrome 2)Long term treatment with cyclophosphamide for Wegener's Granulomatosis 3)Long term treatment with oral steroids for chronic asthma 4)Bronchial Carcinoma 5) Hypereosinophilic Syndrome |
Answer 4) Bronchial Carcinoma
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A 60-year-old woman diagnosed with giant cell arteritis was commenced on high dose prednisolone therapy.
What is the most appropriate treatment for the prevention of steroid-induced osteoporosis 1)Bisphosphonate therapy 2)Calcium and vitamin D 3)Hormone replacement therapy 4)Raloxifene 5)Salmon Calcitonin |
Answer 1)
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Which of the following stimulate the generation of cyclic AMP as the second messenger
1)Nitric Oxide 2)Rosiglitazone 3)Tissue Necrosis Factor (TNF) alpha 4)Cholera toxin 5)Growth hormone |
Answer 4)
NO act through cGMP GH acts through Tyrosine kinase |
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A 55-year-old female undergoes a DEXA scan which reveals a bone mineral density T score of -2.55 at the hip and lumbar spine.
Which of the following may contribute to such a result |
1- Acromegaly
2- Delayed menopause 3- Hypothyroidism 4- Myeloma 5- Obesity Answer 4 (given answer – controversial) Acromegaly also causes osteoporosis |
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A 20 year old man with asthma was found to be hypertensive. Investigations revealed:
Serum sodium 144 mmol/L (137-144) Serum potassium 2.4 mmol/L (3.5-4.9) Serum bicarbonate 30 mmol/L (20-28). Which one of the following is the most likely diagnosis 1)Bartter's syndrome 2)Coarctation of the aorta 3)Congenital Adrenal Hyperplasia 4)Conn's Syndrome 5)Inhaled Salbutamol therapy |
Answer 4) – conn’s
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A 30 year old man had a blood pressure of 150/100 mmHg. Clinical examination was normal. Which one of the
following would suggest secondary hypertension 1)24 hour urinary protein excretion of 1.6g (<0.2) 2)A Creatinine clearance of 90 mL/min (70-140) 3)Left ventricular hypertrophy criteria on the ECG 4)The presence of arteriovenous nipping on fundoscopy. 5)Serum potassium of 3.9 mmol/L (3.5-4.9) |
aNSWER 1
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A 22 year old female presents with a month history of episodic, brief visual loss affecting the right eye. Over the
last one year she had gained a considerable amount of weight. Examination reveals a BMI of 35, with bilateral optic disc swelling, worse on the right and small retinal haemorrhages on the right. What is the most likely diagnosis 1)benign intracranial hypertension 2)Craniopharyngioma 3)Graves' Ophthalmopathy 4)Optic neuritis 5)sagittal sinus thrombosis |
Answer 1
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A 73-year-old female with atrial fibrillation due to ischaemic heart disease, is well controlled with digoxin and
amiodarone. She presents with a two month history of weight loss and palpitations. Examination reveals an irregular pulse of 110 bpm. Investigations show: Serum TSH <0.05 mU/L (0.2-5.5) Serum total T4 140 nmol/L (58-174) Which of the following would be the most useful investigation in establishing the diagnosis of thyrotoxicosis 1)Antithyroglobulin antibody titre. 2)Antithyroid peroxidase antibody titre. 3)Serum free T4 concentration. 4)Serum reverse T3 concentration. 5)Serum total T3 concentration |
Answer 3 (Given)
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A 38 year old man presented with intermittent severe headaches. He was prescribed Spironolactone 50mg and
Bendrofluazide 2.5mg daily for hypertension. On examination his pulse was 112 beats per minute, with regular rhythm, and blood pressure was 190/110 mmHg. Investigations revealed: serum sodium 132 mmol/L (137-144) serum potassium 3.4 mmol/L (3.5-4.9) serum urea 7.0 mmol/L (2.5-7.5) Which one of the following is the most useful investigation in establishing the diagnosis Available marks are shown in brackets 1 ) A 24 hour urinary 5-hydroxyindoleacetic acid concentration 2 ) A 24 hour urinary catecholamine concentration 3 ) A 24 hour urinary free cortisol concentration 4 ) A radionuclide hippuran renogram 5 ) The serum aldosterone: rennin ratio |
Answer – 2)
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Which of the following is a characteristic feature of familial hypercholesterolaemia
Available marks are shown in brackets 1) Autosomal dominant inheritance 2) Elevated chylomicrons 3) hypertriglyceridaemia 4) Increased expression of LDL receptors 5) Palmar xanthomas |
Answerr 1(given)
It is acutually codominant inheritance |
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A 55-year-old woman is found to have ++ glycosuria and had a maternal history of Type II diabetes mellitus. She is a smoker of 20 cigarettes per day. Examination reveals no specific abnormalities apart from a BMI of 30. Blood pressure was 132/88 mmHg. Investigations reveal: serum creatinine 80 µmol/L (60 – 110) plasma glucose (fasting) 11.3 mmol/L (3.0 – 6.0) total serum cholesterol 5.5 mmol/L (<5.2) HDL cholesterol 1.4 mmol/L (>1.55) What is most likely to improve her life expectancy
1 ) Metformin 500 mg bd 2 ) Ramipril 10 mg daily 3 ) Simvastatin 10 mg daily 4 ) Stopping smoking 5 ) Weight loss to achieve a BMI of 25 |
Answer 4) – Given
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A 55 year old man presents with gynaecomastia. He is receiving receiving treatment for Heart failure and
gastro-oesopahageal reflux. Which of the following drugs that he takes is most likely to be responsible for his gynaecomastia Available marks are shown in brackets 1)Amiloride 2)Carvedilol 3)Frusemide 4)Omeprazole 5)Ramipril |
answer 4
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Which of the following is true regarding diabetic foot ulceration
Available marks are shown in brackets 1)Autonomic neuropathy results in increased resting blood flow 2)Callus formation at pressure areas is an important predictor of ulceration 3)Plantar ulceration is most commonly due to atherosclerosis. 4)Skin infection is the most common initiating event in ulceration. 5)Radiography can readily distinguish between Charcot’s joint and osteomyelitis. |
Answer 2)
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Which of the following compounds has a vasodilating effect
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1. antidiuretic hormone
2. calcitonin 3. endothelin 4. renin 5. Somatostatin ? Answer 2 |
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A 45-year-old female presents feeling unwell with weight loss, throat pains and
palpitations. These symptoms have developed over the last two weeks and she has lost approximately 3kg in weight. There is no other past medical history of note. She is a smoker of 10 cigarettes per day and drinks approximately 10 units of alcohol weekly. She is employed as a cleaner. Of note in her family history is a maternal grandmother who receives treatment for an underactive thyroid. On examination she has a temperature of 37.5oC, a fine tremor of the outstretched hands, a pulse of 98 beats per minute regular and a blood pressure of 120/80 mmHg. She has evidence of lid lag but no exophthalmos. Examination of her neck reveals a tender goitre but no palpable lymphadenopathy. No bruit is audible over the goitre. Auscultation of the heart and lungs are both normal and no masses are palpable on abdominal examination. Investigations reveal: Haemoglobin 14.5 g/dL (11.5-16.5) White cell count 7.9 x109/L (4-11 x109) ESR (Westergren) 88 mm/1st hour (0-20) Serum sodium 139 mmol/L (137-144) Serum potassium 4.2 mmol/L (3.5-4.9) Serum urea 6.4 mmol/L (2.5-7.5) Serum creatinine 105 μmol/L (60-110) Serum calcium 2.32 mmol/L (2.2-2.6) Free T4 45.4 pmol/L (10-22) TSH 0.05 mU/L (0.4-5) Anti thyroid peroxidase antibody Positive What is the most likely diagnosis (Please select 1 option) 1. DeQuervain's (subacute) thyroiditis 2. Graves' Disease 3. Hashimoto's thyrotoxicosis 4. Papillary Thyroid cancer 5. Riedel's thyroiditis |
Answer- 1
The salient features of this patient is the relatively acute onset of the illness with temperature, thyrotoxicosis, tender goitre and elevated ESR which all point to a diagnosis of DeQuervain’s thyroiditis. The high ESR would argue against a diagnosis of Hashimoto’s or Graves. You may argue that the TPO abs would favour Hashimoto's or Hashitoxicosis or Graves, but it matters not a jot. In fact TPOAb may be found in association with Graves, Hashimoto's or De Quervain's. It is a feature of Dequervain's that the ESR is this elevated and that the Goitre is tender. DeQuervain's or subacute thyroiditis is a disease of unknown aetiology which is associated with inflammation of the thyroid follicles (thyroiditis) causing a liberation of their contents (thyrotoxicosis) which is often transient. A radio-iodine uptake scan usually shows minimal or Zero uptake. The condition is treated with steroids and/or beta-blockers. |
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77. A 48-year-old male is seen at the diabetic clinic for annual review. He has a four year
history of diabetes and mild hypertension for which he takes gliclazide 160 mg bd, metformin 500 mg bd, Rosuvstatin 10 mg od and bendroflumethiazide 2.5 mg daily. At the consultation he is generally untroubled except for impotence which has deteriorated over the last 12 months. He has tried Viagra but without success. He is becoming increasingly distressed about his impotence although he has an understanding wife. On examination he has a BMI of 29 kg/m2, a blood pressure of 134/78 mmHg, a pulse of 90 bpm and appears well. There is no evidence of neuropathy or retinopathy and all pulses are palpable. His investigations reveal: HbA1c 7.9% (3.8-6.4) Fasting plasma Glucose 9 mmol/L (3.0-6.0) Total Cholesterol 4 mmol/L (<2.5) Serum testosoterone 6.5 nmol/L (9-35) Plasma Lutenising hormone 2.5 mU/L (1-10) Plasma follicle stimulating hormone 3.1 mU/L (1-7) Plasma prolactin 322 mU/L (<360) Which of the following investigations would you request next for this patient (Please select 1 option) 1. MRI pituitary 2. Short synacthen test 3. Thyroid function tests 4. Transferrin Saturation 5. Ultrasound testes |
Answer – 4
This diabetic has hypogonadotrophic hypogonadism as reflected by a low testosterone and low normal LH/FSH. The suggestion therefore is Haemochromatosis as bendroflumethiazide although a cause of impotence would not cause the hypogonadism. An ultrasound of the testes is unnecessary as this is secondary hypogonadism and is not due to a testicular problem. Haemochromatosis is well recognised to cause secondary hypogonadism and appropriate screening tests include transferrin saturation and Total iron binding capacity. |
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A 32-year-old woman presents with a two month history of weight loss and increasing
agitation. On examination she is noted to have a smooth goitre, a fine tremor of the outstretched hand and a pulse of 98 beats per minute. Investigations reveal Free T4 42.6 pmol/L (10-22) Free T3 12.1 pmol/L (5-10) TSH <0.02 mU/L (0.4-5) Haemoglobin 12.8 g/dL (11.5-16.5) White cell Count 8.2 x109/L (4-11 x109) Neutrophil Count 5.5 x109/L (1.5-7 x109) She is commenced on Carbimazole 40 mg daily and informed with regard to potential side effects of treatment. A further appointment was arranged for 2 months. However, she represents three weeks later with a sore throat. Investigations reveal: Free T4 29.9 pmol/L (10-22) Free T3 8.2 pmol/L (5-10) TSH <0.02 mU/L (0.4-5) Haemoglobin 13 g/dL (11.5-16.5) White cell Count 5.5 x109/L (4-11 x109) Neutrophil Count 2.1 x109/L (1.5-7 x109) What is the most appropriate next step in this patient’s management (Please select 1 option) 1. Reassure and continue carbimazole 2. Stop Carbimazole 3. Stop Crabimazole and treat with G-CSF 4. Stop Carbimazole and treat with Radio-iodine 5. Switch Carbimazole to Propylthiouracil |
Patients are often warned that should they develop a sore throat whilst taking any
thionamide then they should seek medical attention. Yet agranulocytosis is rare occuring in less than 1% of cases and sore throats are very common. It is not uncommon to see a drop in WCC associated with thionamides but this patients WCC and neutrophil count is normal. The carbimazole is effectively treating her hyperthyroidism and consequently she should be reassured and the carbimazole continued. |
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A 22-year-old woman presented with a 5-year history of hirsuitism with her having
noticed coarse dark hair under her chin. Being a teacher in a primary school, these symptoms were very distressing for her. She had tried local measures such as shaving and applying depilatory creams but without lasting success. Her periods are irregular with oligomennorhea. She attained menarche at the age of 14-years. She has not yet conceived and has had a coil fitted for contraception. She takes 5mg diazepam at night. On examination, she had a BMI of 24 kg/m2. She had coarse, dark hair over her chin, lower back and inner thighs. She does not have galactorrhea to expression and there were no other clinical features of cushing's syndrome. Investigations during the follicular phase: Serum androstenedione 10.1 nmol/L (2-10) Serum dehydroepiandrosterone sulphate 11.6 μmol/L (2-10) Serum 17-hydroxyprogesterone 5.6 nmol/L (1-10) Serum oestradiol 220 pmol/L (200-400) Serum testosterone 3.6 nmol/L (<3) Serum sex hormone binding protein 32 nmol/L (19-80) Plasma luteinising hormone 10.8 U/L (2.5-10) Plasma follicle-stimulating hormone 3.6 U/L (2.5-10) Plasma prolactin 980 mU/L (<500) What is the most likely diagnosis (Please select 1 option) 1. adult onset congenital adrenal hyperplasia 2. drug induced hyperprolactinemia 3. microprolactinoma 4. polycystic ovarian syndrome 5. testosterone producing ovarian tumour |
Answer – 4
Mild Hyperprolactinemia can occur in PCOS … v. imp This woman with hirsutes and oligomennorrhoea has mild elevation of androsetendione (normal 17OHP arguing against CAH) and mild hypertestosternonaemia (together with elevated androstenedione) yet normal oestradiol . These features are most compatible with PCOS. FSH will be normal or low with PCOS while LH will be elevated. The LH/FSH ratio is normally about 1:1 in premenopausal women, but with PCOS a ratio of greater than 2:1 or 3:1 may be considered diagnostic. 10% of patients with PCOS have hyperprolactinaemia, the aetiology of which is uncertain. However, this physiological elevation does not suppress oestradiol concentrations as is found with a prolactinoma, where LH/FSH would be suppressed and oestradiol low too. |
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A 23-year-old female presents acutely unwell. She has a three month history of weight
loss, tiredness and lethargy which has deteriorated over the last week. Six weeks previously she had been diagnosed with hypothyroidism by her general practitioner. Investigations at that time showed: Free T4 8.8 pmol/L (10-22) Plasma TSH 5.5 mU/L (0.4-5) She had started thyroxine 50 μg daily but had deteriorated over the last 2 weeks. She is a non-smoker, drinks no alcohol and takes the oral contraceptive pill. Her mother and maternal grandmother have both been diagnosed with hypothyroidism and take thyroxine. On examination she appears unwell and mildly dehydrated. She has a temperature of 37.5oC and has a BMI of 21.3 kg/m2. Her blood pressure is 72/44 mmHg, with a pulse of 100 beats per minute. Examination of the cardiovascular system is otherwise normal. No abnormalities are encountered on respiratory or abdominal examination. Brief neurological examination is normal and both plantars are flexor. As yet, the investigations requested by the House Officer are unavailable. In the meantime what is the most appropriate immediate management of this patient (Please select 1 option) 1. Intravenous Cefotaxime 2. Intravenous Glucose 3. Intravenous Hydrocortisone 4. Intravenous normal saline 5. Intravenous thyronine (T3) |
Answer 3
The patient has had a long history of weight loss and fatigue and was diagnosed with hypothyroidism based upon a slightly low T4 and slightly high TSH. Thyroxine was prescribed but this has precipitated a deterioration of the underlying condition such that the patient presents with features suggesting an addisonian crisis. Thus is a medical emergency and should be treated with intravenous hydrocortisone. An appropriate test would be a short synacthen test which could be completed in 30 minutes. Adrenal autoantibodies are likely to be positive in over 80% of cases. Sick euthyroidism is a recognized feature of Addison’s disease and treatment with thyroxine may exacerbate the condition and precipitate acute hypoadrenalism. |
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A 22-year-old male is referred by his General practitioner due to problems related to his
sex life. He has recently entered into his first sexual relationship but has problems achieving an erection and is perturbed by poor sexual development. He describes his pubertal development as poor: being aware of a paucity of pubic hair and he has been embarrassed about his gonadal development. He started to shave at the age of 18 but shaves only twice weekly. Otherwise he is quite fit and active and works as a labourer on a building site. He takes no medication and drinks 20 units of alcohol weekly but mostly on weekends. He has one younger brother. Examination reveals a phenotypically normal male, who is tall but lean with a BMI of 21.2 kg/m2. He has little beard growth, fine skin, a paucity of body hair and scanty pubic hair. His penile length is approximately 6 cm with testicular volumes of approximately 6-7 mls bilaterally (Normal 10-15 mls). Cardiovascular, respiratory and abdominal examination are all normal. Fundal examination is normal and he has normal visual fields. Investigations show: Plasma testosterone concentration 6.2 nmol/L (10-30) LH 20.2 mU/L (2-10) FSH 22.2 mU/L (2-10) Prolactin 433 mU/L (50-500) Free T4 12.6 pmol/L (10-22) TSH 2.3 mU/L (0.4-5) What are the chances of his brother developing this disorder (Please select 1 option) 1. <1% 2. 25% 3. 33% 4. 50% 5. 100% |
Answer 1
This patient has Klinefelter’s syndrome as suggested by the hypergonadotrophic hypogonadism, poor secondary sexual characteristics plus tall stature and suggested poor academic record. This is due to 47XXY and has no specific genetic pattern of inheritance. |
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83. A 33-year-old male presents with anxiety attacks and palpitations associated with
hypertension. As part of screening for secondary hypertension he is noted to have repeatedly high urinary catecholamine concentrations. He is an intermittent smoker of 10 cigarettes per week and drinks approximately 18 units of alcohol weekly. He has been otherwise quite well. He is adopted and no family history is available. He is referred to the local endocrine department where elevated urine catecholamine concentrations are noted and CT scan of his abdomen reveals bilateral adrenal masses of 4 cm diameter. Amongst other investigations an elevated plasma calcitonin concentration is noted. What other abnormality is likely to be present in this patient |
(Please select 1 option)
Cerebellar haemangioma Parathyroid hyperplasia Pituitary adenoma Neurofibromas VIPoma This patient has bilateral phaeochromocytomas and elevated plasma calcitonin concentration suggesting a medullary thyroid cancer and so implying a diagnosis of MEN type 2. The missing piece of the triad for MEN type 2 is hyperparathyroidism and hyperparathyroidism is a likely finding in this patient. MEN type 2 is an autosomal dominant condition although many presentations are sporadic; has been mapped to chromosome 10 and is associated with the presence of the RET proto-oncogene. There are 2 different types – 2A and 2B, of which 2A is commonest and may be distinguished from 2B which is associated with Musculoskeletal abnormalities including Marfanoid habitus and ganglioneuromas. In our particular case there was no mention of any abnormalities on examination to suggest mucosal/truncal neurofibromas. 84. A 40-year-old woman presents with tiredness, weight gain and fatigue of over one year’s duration. Two years ago she underwent trans-sphenoidal resection of a nonfunctioning pituitary tumour. Post-operatively she was confirmed to have panhypopituitarism amd is receiving treatment with hydrocortisone 10 mg bd, thyroxine 100 μg daily, and takes the oral contraceptive logynon. On examination she has a blood pressure of 110/64 mmHg, a pulse of 80 bpm and appears clincally euthyroid. Investigations show: Free T4 12.5 pmol/L (10-22) Plasma TSH 0.2 mU/L (0.4-5.0) Serum oestradiol <80 pmol/L (130-550) What is the most appropriate treatment for this patient’s fatigue (Please select 1 option) 1. DDAVP 2. Fludrocortisone 3. Growth hormone 4. Increase dose of hydrocortisone 5. Increase dose of oestrogen ? Answer – 3. This woman underwent a hypophysectomy for a non-functioning pituitary tumour and since then has had problems with tiredness and fatigue. All her hormonal deficiencies are replaced other than Growth hormone. The Low TSH is a reflection of the hypopituitarism but the T4 is within the normal range. Her dose of hydrocortisone is adequate. She is taking a synthetic oestrogen – ethinyl oestradiol, for estrogen replacement and this is not detectable on the traditional estradiol assay. So this is why the oestradiol concentration is unrecordable and is also the reason why oestradiol should not be requested (but unfortunately is) whilst patients are taking the combined OCP |
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. A 15-year-old female presents with a 6 month history if secondary amenorrhoea. She
has been otherwise well and has also noticed slight galactorrhoea over the last 3 months. She had menarche at the age of 12 and has otherwise had regular periods. She has been sexually active for approximately one year and has occasionally used condoms for contraception. She smokes five cigarettes daily and occasionally smokes cannabis. On examination she appears well, appears clinically euthyroid, has a pulse of 70 bpm and a blood pressure of 112/70 mmHg. Investigations show: Serum oestradiol 130 nmol/L (130-600) Serum LH 4.5 mU/L (2-20) Serum FSH 2.2 mU/L (2-20) Serum prolactin 6340 mU/L (50-450) Free T4 7.2 pmol/L (10-22) TSH 2.2 mU/L (0.4-5.0) What is the most likely diagnosis (Please select 1 option) 1. Drug induced 2. Non-functional pituitary tumour 3. Polycystic ovarian syndrome 4. Pregnancy 5. Prolactinoma |
Answer – 5.
This young girl has hyperprolactinaemia and, in general, a prolactin above 2000 mU/L is suggestive of a prolactinoma rather than a non-functioning tumour with stalk compression. Although hyperprolactinaemia is a feature, this is not pregnancy as elevated oestrdiol concentrations would accompany the hyperprolactinaemia. This level of hyperprolactinaemia would not be found in PCOS as concentrations are below 1000 and the oestradiol concetrations are high normal. |
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A 25-year-old female of Bangladeshi origin presents with weight loss and fatigue of
approximately four months duration. She arrived back in the UK 3 months ago after spending one year in Bangladesh and returned due to ill health. She has otherwise been quite well with no other past medical history, has two children, is a non-smoker and drinks no alcohol. On examination she is thin with a BMI of 20 kg/m2, has obvious pigmentation of the palmar creases, has pigmentation of the buccal mucosa, a pulse of 77bpm and a blood pressure of 100/62 mmHg. No other abnormalities are evident on examination. Investigations show: Haemoglobin 11.2 g/dL (11.5-16.5) MCV 78 fL (80-96) White cell count 9 x10 9/L (4-11 x109) Serum sodium 130 mmol/L (137-144) Serum potassium 5 mmol/L (3.5-4.9) Serum urea 7.8 mmol/L (2.5-7.5) Serum creatinine 110 μmol/L (60-110) Plasma glucose 5 mmol/L (3.0-6.0) ESR (Westergren) 60 mm/1st hr (0-20) 9am plasma cortisol 90 nmol/L (200-550) What would be the best investigation to establish the diagnosis in this patient (Please select 1 option) 1. CT abdomen 2. CT pituitary 3. CT thorax 4. PA Chest X-ray 5. Radiolabelled white cell scan |
Answer – 1.
This young woman presents after returning from a long period in Bangladesh with weight loss and lethargy. Her results are highly suggestive of a primary adrenal failure (pigmentation indicating elevated ACTH hence primary adrenal dysfunction), low sodium, low BP and the low random cortisol. In this case with the high ESR, TB adrenalitis should be considered in the differential but also Addison’s disease is still a possibility. The mostb appropriate initial investigation would be confirmation of hypoadrenalism with a short synacthen test. From the list above a CT adrenals would be logical and absence/shrinkage or enlargement of the adrenals may be seen. Although a CXR would be an appropriate initial investigation this may be normal despite the possibility of TB. |
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A 26-year-old female presents with fatigue and weight loss. Six years previously she
had been diagnosed with type 1 diabetes mellitus following diabetic ketoacidosis. She had been well up until the last one year, since when she has been admitted on two occasions with diabetic ketoacidosis. She is currently receiving soluble insulin three times daily and long acting insulin in the evening. Over the last year she had lost approximately 10kg in weight and over the last 3 months had generally lost her appetite. She had also been amenorrhoeic over the last 3 months. Examination reveals a thin, pale female with a pulse of 76 beats per minute and a blood pressure of 116/80 mmHg. Cardiovascular, respiratory and abdominal examination were normal. Sensation was intact and fundal examination is normal. Investigations reveal: Serum sodium 128 mmol/L (137-144) Serum potassium 5.0 mmol/L (3.5-4.9) Serum urea 6.8 mmol/L (2.5-7.5) Serum creatinine 110 μmol/L (60-110) Serum glucose 11.6 mmol/L (3.0-6.0) HbA1c 11.4% (3.8-6.4) Serum calcium 2.95 mmol/L (2.2-2.6) Serum phosphate 0.8 mmol/L (0.8-1.4) Serum Free T4 8.2 pmol/L (10-22) Serum TSH 1.2 mU/L (0.4-5.0) Serum oestradiol 80 pmol/L (130-850) Serum LH 4.4 mU/L (2-10) Serum FSH 2.2 mU/L (2-10) Serum prolactin 400 mU/L (50-450) Which of the following is the most appropriate investigation for this patient (Please select 1 option) 1. Pituitary CT scan 2. Pregnancy test 3. PTH concentration 4. Synacthen test 5. Thyroid uptake scan |
Answer 4.
This patient with type 1 diabetes has developed deterioration in glycaemic control, nausea and weight loss. Investigations reveal hyponatraemia, hypercalcaemia, low T4 normal TSH and hypogonadotrophic hypogonadism. This all fits with a diagnosis of primary hypoadrenalism. The patient is not pregnant as oestradiol concentrations would be elevated. Although the low oestrogen and T4 concentrations with normal LH/FSH and TSH suggest a pituitary problem these are typical of severe hypoadrenalism and would respond to steroid replacement therapy. A pituitary problem is unlikely to be responsible for this picture as firstly the patient is young, secondly the prolactin concentration is normal and thirdly she already has an autoimmune disorder (T1DM). T1 DM and Addison’s disease are features of Schmidt’s disease (type 2 autoimmune polyendocrine syndrome). Primary ovarian failure is also associated with this condition like primary hypothyroidism but this patient appears not to have developed these as yet. |
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A 52-year-old female presents with weight loss, anxiety and difficulty sleeping. She
had been taking combined cyclical oestrogen/progesterone hormone replacement therapy over the last two years. On examination she was noted to have a body mass index of 26.5 kg/m2, a pulse of 104 beats per minute and a blood pressure of 112/72 mmHg. No goitre was palpable and eye movements were entirely normal. She was noted to have weakness of the proximal musculature of the shoulder and hip girdles. Abdominal examination revealed a palpable splenic tip. Initial investigations revealed the following: Serum total thyroxine 250 nmol/L (60-140) Plasma TSH <0.1 mU/L (0.4-5.0) Serum alkaline phosphatase 202 U/L (45-105) Serum gamma glutamyl transferase 30 U/L (4-35) Her general practitioner commenced her on Carbimazole 10 mg tds together with propranolol 120 mg bd. At review six weeks later the patient appeared clinically euthyroid. Repeat investigations showed: Free thyroxine 180 nmol/L Plasma TSH 2.2 mU/L Serum alkaline phosphatase 160 U/L Serum gamma glutamyl transferase 36 U/L The dose of carbimazole was decreased to 20 mg daily. After 1 year the GP decided to refer her to endocrine outpatients. Two weeks before she had a chest infection treated with erythromycin. Her blood test results showed: Serum thyroxine 80 nmol/L Plasma TSH 10.8 mU/L Serum alkaline phosphatase 102 U/L Which of the following would be the most appropriate, next investigation (Please select 1 option) 1. Serum calcium 2. Fasting serum lipids 3. Isoenzymes of Alkaline Phosphatase 4. Serum free thyroxine 5. Ultrasound Liver |
Answer – 4.
Her most recent TSH is high, suggesting hypothyroidism. The serum total thyroxine is however within the normal range. It is stated in the question that this patient is receiving oestrogen/progesterone HRT. Thyroxine is mostly bound to thyroxine binding globulin in the circulation. Oestrogen therapy is associated with elevation of thyroxine binding globulin in the serum. Thus the total serum thyroxine may be misleading in this case, and serum free thyroxine will confirm whether this patient is hypothyroid or euthyroid |
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A 14-year-old boy is being investigated for nocturnal enuresis. His mother also reports
that he is not doing well academically at school and that he is easily fatigued by physical exertion. A full examination, including blood pressure, is normal. Hb 17.5 g/dL (13.0-18.0) WBC 11.7 x109/L (4-11 x109) Platelets 410 x109/L (150-400 x109) Sodium 136 mmol/L (137-144) Potassium 3.0 mmol/L (3.5-4.9) Urea 5.0 mmol/L (2.5-7.5) Bicarbonate 35 mmol/L (20-28) Glucose 4.5 mmol/L (3.0-6.0) 24hour urine: Potassium 250 mmol/24h (25-100) Sodium 90 mmol/24h (100-250) What is the diagnosis (Please select 1 option) 1. Bartter's syndrome 2. Ectopic ACTH 3. Laxative abuse 4. Primary hyperaldosteronism (Conn's syndrome) 5. Renal artery stenosis |
Answer 1
The patient has a hypokalaemic metabolic alkalosis with urinary potassium wasting characteristic of Bartter's syndrome. The normal blood pressure makes Conn's or renal artery stenosis unlikely. Bartter's syndrome usually presents in childhood with polyuria, nocturnal enuresis and growth retardation. Bartter's syndrome is associated with hyperplasia of the juxtaglomerular apparatus. |
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A 60-year-old female was prescribed thyroxine 150 g daily for hypothyroidism. She
was clinically hypothyroid and no goitre was present. She attends a follow-up clinic and following are her results. Serum total T4 68 nmol/L (55-145) Serum total T3 0.5 nmol/L (0.9-2.5) Serum TSH 70 mU/L (0.4-5) Which of the following would be the next step in her management (Please select 1 option) 1. Investigation for TSH secreting pituitary tumour 2. Measurement of free thyroxine concentration 3. Questioning of the patient about compliance 4. She has sick euthyroid syndrome, no further investigation required 5. Thyroid ultrasound scan |
Answer – 3
No one measures total Thyroid hormone levels any more except the RCP. Pathetic! This patient has a raised TSH but normal total thyroxine and a low T3. Either there is a block on the conversion of T4 to T3 or as seems more likely the patient has just taken the T4 prior to coming to clinic. The explanation is non-compliance. |
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A 77-year-old lady was referred to out patients by her GP. The GP’s note stated that the
patient had a fracture of her femoral neck while she was walking three months previously. The fracture had been treated with a dynamic hip screw. The patient wanted some form of treatment that would ‘strengthen her bones and prevent other fractures’. She had no other medical history of note, except that she had a hysterectomy and bilateral oophorectomy aged 45 for severe menorrhagia. Physical examination was unremarkable. What is the best treatment option for this patient (Please select 1 option) 1. Alendronate 2. Dual energy X-ray absorptiometry (DEXA) scanning 3. Raloxifene 4. Teriparatide 5. Calcitonin |
Answer 1
The January 2005 guidelines on the secondary prevention of osteoporosis recommend that patients over 75 with a history of a fragility fracture should be started on Bisphosphonates without the need of a prior DEXA scan. Raloxifene and Teriparatide are second line treatments if Bisphosphonates are not tolerated, ineffective or unsuitable for the patient, |
