Endocrine

Question 1

A 47-year-old man presents with arthritic pain of knees and hips, soft-tissue swelling, and excessive sweating. He also noticed progressive enlargement of the hands and feet. He has been taking antihypertensive medicine for the past 3 years. On physical examination, he has coarse facial features with prognathism and prominent supra-orbital ridges. The tongue is enlarged and the fingers are thickened. His wife complains that he frequently snores. He has elevated IGF-1. MRI examination of the sella turcica region shows a 14 mm pituitary mass with right cavernous sinus invasion.

Answer 1

Acromegaly

Question 2

A 15-year-old girl presents with primary amenorrhoea and accelerated growth. On physical examination, her height is above the 90th percentile, her pubertal development is evaluated at Tanner stage 2, and she has soft-tissue swelling. Laboratory work-up reveals a moderately elevated serum prolactin and an elevated IGF-1. Pituitary MRI shows a 15 mm pituitary mass without parasellar extension.

Answer 2

Acromegaly

Question 3

A 48-year-old man has a 4-month history of increasing fatigue and anorexia. He has lost 5.5 kg and noticed increased skin pigmentation. He has been otherwise healthy. His mother has Hashimoto’s thyroiditis and one of his sisters has type 1 diabetes. His blood pressure is 110/85 mmHg (supine) and 92/60 mmHg (sitting). His face shows signs of wasting and his skin has diffuse hyperpigmentation, which is more pronounced in the oral mucosa, palmar creases, and knuckles.

Answer 3

Addison’s disease (adrenal insufficiency)

Question 4

A 54-year-old woman with hypothyroidism complains of persistent fatigue, despite adequate thyroxine replacement. She has noticed increasing lack of energy for the past 3 months and additional symptoms of anorexia and dizziness. She also has significant loss of axillary and pubic hair. Her blood pressure is 105/80 mmHg (supine) and 85/70 mmHg (sitting). The only abnormal finding on physical examination is a mild increase in thyroid size, with the thyroid having rubbery consistency.

Answer 4

Addison’s disease (adrenal insufficiency)

Question 5

A 60-year-old man presents with a 3-year history of diarrhoea, with no clear precipitating factors. Over the past few months he has noticed flushing affecting his face. These episodes occur at any time but are worse during times of stress and exercise. His wife has also noticed intermittent reddening of his face, which lasts for a few minutes. More recently he has not tolerated alcohol, chocolate, or bananas.

Answer 5

Carcinoid syndrome

Question 6

A 50-year-old woman presents with a long history of atypical flushing, initially attributed to menopause. The flushing is associated with purplish discolouration of the face with each episode lasting 30 minutes. She also reports palpitations on exertion and recurrent episodes of abdominal pain.

Answer 6

Carcinoid syndrome

Question 7

A 34-year-old woman presents with complaints of weight gain and irregular menses for the last several years. She has gained 20 kg over the past 3 years and feels that most of the weight gain is in her abdomen and face. She notes bruising without significant trauma, difficulty rising from a chair, and proximal muscle wasting. She was diagnosed with type 2 diabetes and hypertension 1 year ago.

Answer 7

Cushing syndrome

Question 8

A 54-year-old man presents for evaluation of an incidentally discovered adrenal nodule. He underwent a CT scan of the abdomen for evaluation of abdominal pain, which was negative except for a 2 cm well-circumscribed, low-density (2 Hounsfield units) nodule in the right adrenal gland. He reports weight gain of 15 kg over the past 4 years. He has difficult-to-control type 2 diabetes and hypertension. He has had 2 episodes of renal colic in the last 5 years.

Answer 8

Cushing syndrome

Question 9

A 42-year-old man undergoes trans-sphenoidal surgery for a large, non-functioning pituitary macro-adenoma. Preoperatively, dynamic pituitary hormone tests were normal, as was his fluid intake and output. Two days following surgery he developed acute polyuria, extreme thirst, and polydipsia. His urine output over the next 24 hours was 6 litres, with frequent nocturia.

Answer 9

Diabetes insipidus

Question 10

A 75-year-old woman presents to her family physician with a 6-month history of progressive fatigue and malaise with polyuria, polydipsia, and nocturia. She has a long-standing history of bipolar affective disorder, and has been receiving lithium for the past 15 years.

Answer 10

Diabetes insipidus

Question 11

A 12-year-old white girl is brought to the emergency department by her parents due to 12 hours of rapidly worsening nausea, vomiting, abdominal pain, and lethargy. Over the last week she has felt excessively thirsty and has been urinating a lot. Physical examination reveals a lean, dehydrated girl with deep rapid respirations, tachycardia, and no response to verbal commands.

Answer 11

T1DM

Question 12

A 10-year-old black girl was seen by her general practitioner during a routine well-child check. She was noted to be tall for her age (height >95% percentile) and obese (body mass index >95%). On physical examination, she was found to have acanthosis nigricans on her neck and axilla and had a vaginal yeast infection. She was noted to be Tanner stage 3 for breast and pubic hair development. Urinalysis revealed significant glycosuria with negative protein and ketones. A random blood glucose, obtained because of the glycosuria, was 19.4 mmol/L (349 mg/dL). Family history revealed both parents to be obese. The maternal grandfather had a myocardial infarction at the age of 48 years and has hypertension and hypercholesterolaemia.

Answer 12

T2DM

Question 13

An overweight 55-year-old woman presents for preventative care. She notes that her mother died of diabetes, but reports no polyuria, polydipsia, or weight loss. BP is 144/92 mmHg, fasting blood sugar 8.2 mmol/L (148 mg/dL) (on 2 occasions), HbA1c 65 mmol/mol (8.1%), LDL-cholesterol 5.18 mmol/L (200 mg/dL), HDL-cholesterol 0.8 mmol/L (30 mg/dL), and triglycerides 6.53 mmol/L (252 mg/dL).

Answer 13

T2DM

Question 14

A 20-year-old man is brought to the accident and emergency department with abdominal pain, nausea, and vomiting with increasing polyuria, polydipsia, and drowsiness since the previous day. He was diagnosed with type 1 diabetes 2 years previously. He mentions that he ran out of insulin 2 days ago. Vital signs at admission are: BP 106/67 mmHg, heart rate 123 beats per minute, respiratory rate 32 breaths per minute, temperature 37.1°C (98.8°F). On mental status examination, he is drowsy. Physical examination reveals Kussmaul breathing (deep and rapid respiration due to ketoacidosis) with acetone odour and mild generalised abdominal tenderness without guarding and rebound tenderness.

Answer 14

Diabetic ketoacidosis

Question 15

A 38-year-old woman, who in the past had tried to lose weight without success, is happy to see that in the last 2 months she has lost about 11 kg (25 pounds). She also has difficulty sleeping at night. Her husband complains that she is keeping the house very cool. She recently consulted her ophthalmologist because of redness and watering of the eyes. Eye drops were not helpful. She consults her doctor for fatigue and anxiety, palpitations, and easy fatigability. On physical examination, her pulse rate is 100 bpm and her thyroid is slightly enlarged. Conjunctivae are red and she has a stare.

Answer 15

Graves’ disease

Question 16

At a routine examination, a 65-year-old woman is discovered to have hypercalcaemia. Follow-up laboratory tests show synchronously elevated serum calcium and intact parathyroid hormone, with low phosphorus and mildly elevated alkaline phosphatase. 25-hydroxyvitamin D is in the low normal range. Past medical history is significant for hypertension and coronary artery disease. Review of symptoms includes complaints of fatigue, feeling achy, and vague depression and mental fatigue. The patient has a history of nephrolithiasis and newly detected osteopenia. Family history is negative for renal stones or calcium disorders.

Answer 16

Primary hyperparathyroidism

N.B. see other types of hyperparathyroidism in Amir Sam’s lecture notes

Question 17

A 27-year-old man presents for evaluation of infertility. He had a normal birth and early development, but did not undergo puberty. He has developed none of the typical male secondary sexual characteristics. He reports diminished libido, although he occasionally gets early morning erections. He is able to get an erection during sexual activity, provided he is sufficiently aroused. He married 3 years ago, but attempts to father a child have been unsuccessful. His wife has normal menstrual cycles and her gynaecological examination is normal. On examination, the patient has sparse facial hair and low hair line. Minimal bilateral, non-tender gynaecomastia is present. The patient has a normal penis and scrotum, but the testes are small and firm with an estimated volume of 4 mL each.

Answer 17

Hypogonadism (male)

Question 18

A 42-year-old man presents with a 4-month history of frontal headaches and decreased libido. The symptoms started gradually. In addition to decreased libido, the patient also complains of gradual loss of early morning erections. He has been married for 12 years and has 3 children. He denies any head or testicular injury. He also denies gynaecomastia or galactorrhoea. The only abnormality on his physical examination is bitemporal hemianopia on visual field testing.

Answer 18

Hypogonadism (male)

Question 19

A 35-year-old woman has not resumed menses since stopping oral contraceptives 1 year ago. She reports normal puberty and regular menses both before and during her use of oral contraceptives. She had one normal pregnancy with a spontaneous vaginal delivery 3 years ago. She has no significant medical history except for mild hypothyroidism. She has noted occasional episodes of vaginal dryness and irritation and feels occasionally as if someone has turned the temperature up in the room. Sexual intercourse has become increasingly uncomfortable. A physical examination demonstrates atrophic changes in the vagina. A pregnancy test is negative.

Answer 19

Premature ovarian failure

Question 20

A 40-year-old man has a 12-month history of progressive headaches, weight loss, poor appetite, lethargy, cold intolerance, and erectile dysfunction. He has difficulty seeing the periphery when driving his car. Physical examination is remarkable for bradycardia, gynecomastia, scant body hair, delayed relaxation of his reflexes, and bitemporal haemianopia.

Answer 20

Hypopituitarism

Question 21

A 32-year-old woman presents to her doctor with a 10-month history of depression, hot flushes, weight gain, reduced libido, lethargy, cold intolerance, and amenorrhoea. She delivered a healthy baby boy 10 months ago; however, the delivery was complicated by a significant post-partum haemorrhage requiring multiple blood transfusions. She was unable to breastfeed her baby and has been amenorrhoeic since that time. Physical examination is remarkable for a flat affect, bradycardia, weight loss, and delayed relaxation of her reflexes.

Answer 21

Hypopituitarism

Question 22

A 25-year-old woman presenting with renal colic also complains of new-onset headaches, fatigue, and constipation. Her menstrual cycle is regular and she has not experienced episodes of flushing. Her weight is unchanged and her peripheral vision is normal. Family history reveals that her father had kidney stones and died of a ‘stomach problem’ in his 60s. Examination is unremarkable with visual fields full to confrontation.

Answer 22

Multiple endocrine neoplasia syndromes

Question 23

An 18-year-old man with no medical history presents with a lump on his neck that he noticed while shaving. A 2-cm thyroid nodule is palpable. There is nothing else of note on examination.

Answer 23

Multiple endocrine neoplasia syndromes

Question 24

A 54-year-old woman with a height of 163 cm (5 ft 4 in) and weight of 80.3 kg presents to her general practitioner with a chief complaint of vaginal bleeding. She is post-menopausal, and her medical history consists of hypertension, type 2 diabetes, hypercholesterolaemia, osteoarthritis of both knees, and depression. She has also had a caesarean section and a cholecystectomy.

Answer 24

Obesity

Question 25

A 45-year-old woman presents for evaluation of her obesity. She has been obese all of her life and has tried multiple weight loss programmes without success. In the last 6 months, she has undergone a physician-supervised diet and exercise with minimal change in her weight. She weighs 120 kg and stands 165 cm (5 ft 5 in) tall. Her comorbidities include hypertension, diabetes, obstructive sleep apnoea, and GORD.

Answer 25

Obesity

Question 26

A 72-year-old man is evaluated for increasing fatigue and bone pain. His medical history is significant for chronic alcoholism, lactose intolerance, and a vertebral compression fracture 1 year ago. He is housebound without any sunlight exposure. He denies any personal or family history of kidney stones, fractures, or osteoporosis. His physical examination is remarkable for generalised tenderness of the long bones and proximal muscle weakness, with difficulty climbing stairs and a waddling gait.

Answer 26

Osteomalacia

Question 27

A 55-year-old man complains of persistently aching legs. He is initially diagnosed with fibromyalgia. However, his blood tests reveal an elevated serum alkaline phosphatase. Subsequent x-ray of the tibia/fibia shows defects in the cortical and cancellous bone, with some degree of tibial bowing, leading to a revised diagnosis of Paget’s disease.

Answer 27

Paget’s disease of bone

Question 28

A late middle-aged woman presents with chronic right hip and anterior thigh pain, with increased localised temperature. Lately she has needed a walking stick. During the last 6 months her relatives have noticed a progressive hearing loss on her left side, as well as some facial changes - mostly enlargement of her mandible.

Answer 28

Paget’s disease of bone

Question 29

A 33-year-old woman presents to her doctor complaining of a several-month history of episodic palpitations and diaphoresis. She states that her husband noticed that she becomes pale during these episodes. She has been experiencing progressive episodic headaches, which are not relieved by paracetamol. In the past, she has been told that she had a high calcium level. She has a history of kidney stones. Her family history is unremarkable; specifically, there is no history for tumours, endocrinopathies, or hypertension. Physical examination reveals a BP of 220/120 mmHg and hypertensive retinal changes.

Answer 29

Phaeochromocytoma

Question 30

A 28-year-old woman presents with headaches for the past 9 months that have worsened recently. Review of systems is otherwise negative except for some irregularity in her menstruation over the past year. On physical examination she has no stigmata for Cushing’s syndrome or acromegaly. Her visual fields by confrontation are normal and she has had no galactorrhoea.

Answer 30

Non-functioning pituitary adenoma

Question 31

A 52-year-old man presents with some difficulty driving at night and reports not seeing cars coming from the sides. He also describes progressive loss of libido and inability to obtain and maintain an erection, which started about 2 years ago. He reports bumping into things. He has gained about 5 kg (11 lb) in weight over the past 2 to 3 years. He has fatigue and is unable to do the same jobs that he used to do a year ago. The examination reveals moderate obesity (BMI 35) with some loss of muscle bulk over the proximal arm and leg muscle groups. Other positive findings include the presence of small bilateral gynaecomastia, soft testicles (12 mL), and abnormal visual fields to confrontation, with bitemporal hemianopia.

Answer 31

Non-functioning pituitary adenoma

Question 32

An 18-year-old woman presents with a chief complaint of hirsutism. She needs to wax her upper lip and chin twice a week. This has been a problem for 4 years. She also has excess hairs on her upper back and lower abdomen. Her periods are irregular, occurring every 2 to 3 months. Embarrassment about the facial hirsutism has affected her social life, and she is finding she feels depressed much of the time.

Answer 32

PCOS

Question 33

A 32-year-old women presents with a chief complaint of difficulty becoming pregnant. She was prescribed oral contraceptives at the age of 17 years because of irregular periods (4 to 6 periods per year). She continued with oral contraception until 30 years of age, at which point she and her husband decided they wanted to have a baby. Since ceasing oral contraception, she has gained weight and has only 3 to 5 periods per year. She has actively been trying to conceive, with no results.

Answer 33

PCOS

Question 34

A 54-year-old man presents with a 10-year history of hypertension that has been difficult to control with antihypertensive medicines. His symptoms include frequent headaches, nocturia (3-4 times per night), and lethargy. He has no other medical conditions or past medical history. Apart from a BP of 160/96 mmHg, findings on physical examination are unremarkable. Plasma electrolytes are normal.

Answer 34

Primary hyperaldosteronism

Question 35

A 28-year-old woman presents with a 2-year history of hypertension, associated with nocturia (4-5 times per night), polyuria, palpitations, limb paraesthesias, lethargy, and generalised muscle weakness. There is no other past medical history. Physical examination is unremarkable apart from a blood pressure (BP) of 160/100 mmHg, global hyporeflexia, and weak muscles. Plasma potassium is 2.2 mmol/L (2.2 mEq/L), bicarbonate is 34 mmol/L (34 mEq/L), and serum creatinine is normal.

Answer 35

Primary hyperaldosteronism

Question 36

A 27-year-old woman presents with amenorrhoea. She had been taking the combined oral contraceptive pill for the last 9 years, stopping this 11 months ago. She is otherwise healthy, but on physical examination she has bilateral galactorrhoea. Laboratory work-up reveals an elevated prolactin level of 3000 mIU/L (150 micrograms/L). Normal prolactin levels are up to 500 mIU/L (25 micrograms/L). She also had low-normal gonadotrophin (LH, FSH) levels. MRI examination of the pituitary sellar region depicts a 6 mm right-sided pituitary mass, with no suprasellar or parasellar extension.

Answer 36

Prolactinoma

Question 37

A 45-year-old man presents with loss of libido and some erectile dysfunction. He is otherwise healthy. On physical examination he has mild bilateral gynaecomastia and normal testes. Laboratory work-up reveals a highly elevated prolactin level of 46,000 mIU/L (2300 micrograms/L). Normal prolactin levels are up to 300 mIU/L (15 micrograms/L). He also has low testosterone, LH, and FSH levels. MRI examination of the pituitary sella depicts a large 32 mm pituitary macro-adenoma with suprasellar extension and optic chiasmal compression. Visual field assessment reveals bi-temporal hemianopia.

Answer 37

Prolactinoma

Question 38

A 76-year-old homeless white man presents to the emergency department after police find him disoriented on the streets in late August. The patient gives little history, but admits to ongoing cough with productive sputum, night sweats/chills, and mild dyspnoea. He proceeds to suffer from a seizure. Vital signs demonstrate an elevated temperature at 38.7°C (101.7°F), a respiration rate of 26 breaths per minute, 94% oxygen saturation (on 3 L of O2), and pulse 87 bpm, with no evidence of orthostatic hypotension. Physical examination demonstrates a malnourished and dishevelled man in a postictal state. There is no sign of injury to the body. Crackles can be heard at the right lung base. Lab work demonstrates serum sodium of 120 mmol/L (120 mEq/L), serum creatinine of 88 micromol/L (1.0 mg/dL), and negative alcohol and toxicology screens. CXR demonstrates a large infiltrate in the right lower lung, consistent with pulmonary infection or abscess.

Answer 38

SIADH

Question 39

A 40-year-old woman is found to have a 2-cm right-sided thyroid nodule during a routine physical examination. She has no history of head and neck irradiation or family history of thyroid cancer. The nodule is firm and mobile in relation to the underlying tissue. Vital signs and the remainder of the examination are normal.

Answer 39

Thyroid cancer

Question 40

A 40-year-old woman with no prior thyroid history presents with 7 days of fevers to 40°C (104°F), shaking, chills, myalgias, and pharyngitis. On the last day she has developed a severe neck pain that radiates to her ear and jaw. She has noted rapid heartbeat, palpitations, tremor, and feeling hot. The neck pain is severe and has changed from the left side of her neck to the right side in the last 24 hours. She cannot eat or drink anything because it exacerbates the pain. She indicates that the pain is not in her pharynx but over her lower neck and radiates to her ear and jaw. She is mildly distressed and will not let you touch her neck because it hurts so much. On examination, her thyroid is enlarged, firm, and very tender to palpation.

Answer 40

Thyroiditis

Question 41

At a routine check-up, a 70-year-old woman has an irregularly irregular pulse of 88 bpm and BP of 150/60 mmHg. Neck examination reveals an enlarged thyroid (approximately 30 g) with irregular, bumpy texture. There is no substernal extension, lymphadenopathy, or bruit. The remainder of the examination is unremarkable except for a I-II/VI systolic murmur at the left sternal border and minimal tremor of the outstretched hands. The patient denies heat intolerance or nervousness, but says she has lost a few kilograms over the past year. There is no history of head and neck irradiation. Her aunt had a goitre.

Answer 41

Toxic multinodular goitre