30 clinical MCQs in Chemical Pathology II. A 27-year-old boy has delayed puberty and anosmia. LH and FSH are low with low testosteron. Kenya, Africa and...
Q1. A 27-year-old boy has delayed puberty and anosmia. LH and FSH are low with low testosterone. The most likely diagnosis is:
Answer: Klinefelter syndrome
Explanation: Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia, which fits the clinical picture.
Q2. A patient develops polyuria and polydipsia after head trauma. Urine osmolality is low and rises after desmopressin. The most likely diagnosis is:
Answer: Nephrogenic diabetes insipidus
Explanation: Polyuria, polydipsia, low urine osmolality, and a rise in osmolality after desmopressin indicate central diabetes insipidus, where the pituitary fails to produce ADH.
Q3. A 45-year-old man with a suprasellar mass has headaches and bitemporal hemianopia. The lesion most likely arises from:
Answer: Rathke pouch remnants
Explanation: A suprasellar mass causing bitemporal hemianopia is characteristic of a craniopharyngioma, which arises from Rathke's pouch remnants.
Q4. A 28-year-old woman presents with amenorrhoea and galactorrhoea. Prolactin is markedly raised. The most likely cause is:
Answer: Prolactinoma
Explanation: Amenorrhoea, galactorrhoea, and markedly raised prolactin are classic symptoms of a prolactinoma.
Q5. A pituitary macroadenoma compressing the optic chiasm most commonly causes:
Answer: Unilateral blindness
Explanation: Compression of the optic chiasm by a pituitary macroadenoma typically leads to bitemporal hemianopia.
Q6. A 52-year-old man has enlarged hands, prognathism, and sweating. IGF-1 is elevated. The most common cause is:
Answer: Ectopic GHRH secretion
Explanation: The symptoms of enlarged hands, prognathism, sweating, and elevated IGF-1 are characteristic of acromegaly, most commonly caused by a pituitary somatotroph adenoma.
Q7. A 24-year-old woman has weight loss, tremor, palpitations, and exophthalmos. TSH is suppressed and free T4 is elevated. Most likely diagnosis:
Answer: Hashimoto thyroiditis
Explanation: Weight loss, tremor, palpitations, exophthalmos, suppressed TSH, and elevated free T4 are classic signs of hyperthyroidism, specifically Graves' disease due to the exophthalmos.
Q8. Graves disease is driven primarily by antibodies to the:
Answer: Thyroglobulin
Explanation: Graves' disease is an autoimmune condition caused by stimulating antibodies directed against the TSH receptor.
Q9. A 46-year-old woman has a painless goitre and hypothyroid symptoms. Anti-TPO antibodies are positive. Most likely diagnosis:
Answer: Graves disease
Explanation: A painless goitre, hypothyroid symptoms, and positive anti-TPO antibodies are characteristic features of Hashimoto's thyroiditis.
Q10. A 40-year-old woman has hypertension and hypokalaemia with low renin. The most likely diagnosis is:
Answer: Addison disease
Explanation: Hypertension, hypokalaemia, and low renin are the classic triad for primary hyperaldosteronism, also known as Conn's syndrome.
Q11. Conn syndrome results from excess:
Answer: Cortisol
Explanation: Conn's syndrome is primary hyperaldosteronism, meaning it is caused by excessive production of aldosterone.
Q12. A 38-year-old has episodic headaches, sweating, palpitations and severe hypertension. The best screening test is:
Answer: Serum cortisol
Explanation: The symptoms of episodic headaches, sweating, palpitations, and severe hypertension are highly suggestive of a pheochromocytoma, for which plasma free metanephrines or 24-hour urinary fractionated metanephrines are the best screening tests.
Q13. A 19-year-old with abdominal pain, Kussmaul breathing, high ketones and metabolic acidosis most likely has:
Answer: Hyperosmolar hyperglycaemic state
Explanation: Abdominal pain, Kussmaul breathing, high ketones, and metabolic acidosis are the hallmark features of diabetic ketoacidosis (DKA).
Q14. Hyperosmolar hyperglycaemic state is most associated with:
Answer: Type 1 diabetes
Explanation: Hyperosmolar hyperglycaemic state (HHS) is a severe complication predominantly seen in patients with Type 2 diabetes.
Q15. A patient has recurrent fasting hypoglycaemia relieved by glucose. During symptoms, insulin is inappropriately high. Most likely tumour:
Answer: Glucagonoma
Explanation: Recurrent fasting hypoglycaemia with inappropriately high insulin levels that is relieved by glucose is the classic presentation of an insulinoma.
Q16. A 65-year-old heavy smoker presents with hyponatraemia, low plasma osmolality and concentrated urine. The most likely cause is:
Answer: Diabetes insipidus
Explanation: Hyponatraemia, low plasma osmolality, and concentrated urine are characteristic of SIADH (Syndrome of Inappropriate ADH secretion), which in a heavy smoker is often caused by ectopic ADH secretion from small cell lung carcinoma.
Q17. Ectopic ACTH secretion is most commonly associated with:
Answer: Thyroid carcinoma
Explanation: Ectopic ACTH secretion, leading to Cushing's syndrome, is most frequently caused by small cell carcinoma of the bronchus (small cell lung cancer).
Q18. Elevated urinary 5-HIAA is most indicative of:
Answer: Carcinoid syndrome
Explanation: 5-HIAA (5-hydroxyindoleacetic acid) is the main metabolite of serotonin, which is produced in excess by carcinoid tumors.
Q19. MEN1 most commonly involves tumours of:
Answer: Thyroid, adrenal, pancreas
Explanation: MEN1 (Multiple Endocrine Neoplasia type 1) is classically associated with tumors of the parathyroid, pituitary, and pancreas (the 3 Ps).
Q20. MEN2 is associated with mutation of the:
Answer: RET proto-oncogene
Explanation: MEN2 (Multiple Endocrine Neoplasia type 2) syndromes are caused by germline mutations in the RET proto-oncogene.
Q21. Hyperparathyroidism in MEN1 typically results in:
Answer: Hypocalcaemia
Explanation: Hyperparathyroidism causes excessive parathyroid hormone secretion, leading to elevated serum calcium (hypercalcaemia).
Q22. Klinefelter syndrome typically shows:
Answer: XX karyotype
Explanation: Klinefelter syndrome is a genetic condition in males characterized by the presence of an extra X chromosome, resulting in an XXY karyotype.
Q23. Clitoromegaly is most characteristic of:
Answer: Virilisation
Explanation: Clitoromegaly is a prominent sign of virilisation, indicating excessive androgen exposure in females.
Q24. Infertility is defined as failure to conceive after:
Answer: 12 months
Explanation: Infertility is typically defined as the inability to conceive after 12 months of regular unprotected intercourse.
Q25. Elevated FSH in a woman with infertility suggests:
Answer: Ovarian failure
Explanation: Elevated FSH levels in an infertile woman suggest ovarian failure, as the pituitary gland increases FSH production to stimulate non-responsive ovaries.
Q26. Progesterone 30 nmol/L seven days before menses indicates:
Answer: Ovulation occurred
Explanation: A progesterone level above 30 nmol/L in the mid-luteal phase confirms that ovulation has occurred.
Q27. A 40-year-old man with severe flank pain and haematuria is most likely suffering from:
Answer: Renal calculi
Explanation: Severe flank pain (renal colic) and haematuria are classic symptoms of renal calculi (kidney stones).
Q28. A patient with nephrotic syndrome is most likely to have which of the following?
Answer: Proteinuria >3.5 g/day
Explanation: Nephrotic syndrome is defined by massive proteinuria, specifically greater than 3.5 g/day.
Q29. A "peak" sample is taken:
Answer: Before dose
Explanation: A "peak" sample for therapeutic drug monitoring is taken when the drug concentration is expected to be at its maximum after administration.
Q30. In hypoalbuminaemia, total phenytoin may be:
Answer: Falsely low relative to free level
Explanation: Phenytoin is highly protein-bound; in hypoalbuminemia, less drug is bound, leading to a higher free fraction, so the measured total phenytoin level may appear falsely low relative to the pharmacologically active free level.