Clinical presentations (all disease) Flashcards
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.
Type 1 diabetes
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), 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).
Type 2 diabetes
blurred vision; fatigue; erectile dysfunction; urinary tract or candidal infections; dry itchy skin; paresthaesias; increased urination, thirst, and appetite; or unexplained weight loss.
Type 2 diabetes
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.
Graves’ disease
weight loss, atrial fibrillation, or myopathy may typically be present.[4] Some patients do not have an enlarged thyroid. Women may present with menstrual changes such as oligomenorrhoea.[5] Men may develop gynaecomastia. Patients may present with pedal oedema or dyspnoea without congestive heart failure.[6] Some patients may present with orbitopathy
Graves’ disease
A 45-year-old white woman presents with symptoms of fatigue, depression, and mild weight gain. Physical examination demonstrates heart rate of 58 beats per minute, coarse dry skin, and bi-lateral eyelid oedema.
Hypothroidism
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. The nodule is firm and mobile in relation to the underlying tissue. Vital signs and the remainder of the examination are normal.
Thyroid cancer
Hoarseness, dyspnoea, dysphagia, or cough. With a palpable mass in the neck
Thyroid cancer
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.
Cushing’s disease
A 54-year-old man presents for evaluation of an incidentally discovered adrenal nodule. He underwent a computed tomography 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.
Cushing’s disease
A 47-year-old man presents with arthritic pain of the 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 prognathic and prominent supra-orbital ridges. The tongue is enlarged and the fingers are thickened. His wife says that he frequently snores.
Acromegaly
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.
Acromegaly
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 blood pressure (BP) of 160/96 mmHg, findings on physical examination are unremarkable. Plasma electrolytes are normal.
Conn’s Syndrome
A 28-year-old woman presents with a 2-year history of hypertension, associated with nocturia (4-5 times per night), polyuria, palpitations, limb paraesthesia’s, lethargy, and generalised muscle weakness. There is no other past medical history. Physical examination is unremarkable apart from a 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.
Conn’s syndrome
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.
Pituitary adenomas
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),
Pituitary adenoma
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 (luteinising hormone [LH], follicle-stimulating hormone [FSH]) levels. Magnetic resonance imaging (MRI) examination of the pituitary sellar region depicts a 6 mm right-sided pituitary mass, with no suprasellar or parasellar extension.
Prolactinoma
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 macroadenoma with suprasellar extension and optic chiasmal compression. Visual field assessment reveals bi-temporal hemianopia.
Prolactinoma
A 36-year-old woman presents with increasing fatigue especially in the afternoon, 7 kg weight loss, decreased appetite, diminished libido, and decreased axillary and pubic hair over a 10-month period. She is craving salty food and feels dizzy when standing up suddenly. She has been dying her hair as she started having grey hair when she was 17 years old. Her mother has Hashimoto’s thyroiditis and one of her sisters has type 1 diabetes. Her blood pressure is 102/66 mmHg with a heart rate of 86 beats/minute (supine) and 78/56 mmHg with a heart rate of 116 beats/minute (sitting). Hyperpigmentation is noted in the oral mucosa and also over a previous appendectomy scar.
Addison’s
A 63-year-old woman with severe degenerative osteoarthritis of the knees underwent total right knee replacement without immediate complications. She had a history of atrial fibrillation for several years and was on oral anticoagulant therapy and beta blockers. The oral anticoagulant therapy was discontinued before surgery and she was placed on intravenous heparin postoperatively. Two days after starting heparin therapy, she became fatigued and nauseated. Her supine blood pressure decreased from its preoperative value of 122/78 mmHg to 90/60 mmHg.
Addison’s
A 55-year-old man is seen urgently at the clinic for weakness, nausea, and vomiting. He has a history of chronic obstructive pulmonary disease, with previous admissions to the hospital for exacerbations necessitating systemic glucocorticoids, including twice in the past month alone. During these admissions he recalls receiving intravenous glucocorticoids that are later switched to an oral formulation. He was last discharged 3 weeks ago, but his take-home oral glucocorticoid doses were higher and the tapering schedule longer than usual for him. He felt that his breathing had improved but that he was gaining weight, so he stopped taking the pills 1 week ago. On examination, his blood pressure is 86/58 mmHg, his pulse rate is 103 beats/minute, and he has moon facies.
Secondary adrenal insufficiency
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. Chest x-ray demonstrates a large infiltrate in the right lower lung, consistent with pulmonary infection or abscess.
SIADH
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.
Diabetes insipidus
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.
Diabetes insipidus
At a routine examination, a 55-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.
Primary hyperparathyroidism
A 50-year-old obese woman with long-standing, poorly controlled diabetes presents with lethargy and fatigue. Screening labs report that she has a creatinine level of 190.6 micromol/L (2.5 mg/dL) and a urea level of 14.3 nanomol/L (40 mg/dL). Additional labs are ordered, which reveal a calcium level of 1.85 mmol/L (7.4 mg/dL) and a phosphorus level of 1.9 mmol/L (5.9 mg/dL). The parathyroid hormone level is 400 nanograms/L (400 picograms/mL).
Secondary hyperparathyroidism
An 85-year-old female nursing-home patient is being seen for post-menopausal skeletal disease that has become a concern after she fell and broke her wrist. Her bone densitometry reveals osteoporosis (T-score: -3.5). Lab tests return with a calcium level of 2.2 mmol/L (8.8 mg/dL) and a parathyroid hormone level of 120 nanograms/L (120 picograms/mL). These results prompt vitamin D testing that returns a 25-hydroxyvitamin D level of 14 nanograms/mL.
Secondary hyperparathyroidism
