Which of the following are causes of nephrogenic diabetes insipidus?
- A. Sheehan's syndrome
- B. Lithium
- C. Mutations in the vasopressin (ADH) receptor gene
- D. Mutations in vasopressin gene
Correct Answer: B
Rationale: Nephrogenic diabetes insipidus (NDI) is a condition where the kidneys are unable to respond to antidiuretic hormone (ADH) as they should, leading to excessive urination and extreme thirst. One of the main causes of nephrogenic diabetes insipidus is the use of certain medications, with lithium being the most common culprit. Lithium can interfere with the kidney's response to ADH, resulting in decreased water reabsorption and the characteristic symptoms of diabetes insipidus. Other causes of NDI can include genetic mutations affecting the vasopressin receptor gene or other underlying conditions such as hypercalcemia, hypokalemia, or obstructive uropathy.
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Karyotype 47, XYY is:
- A. True hermaphroditism
- B. Supermale
- C. Klinefelter's syndrome
- D. Gonadal dysgenesis
Correct Answer: B
Rationale: Karyotype 47, XYY refers to the presence of an extra Y chromosome in males. This condition is known as XYY syndrome, also called Jacob's syndrome. Individuals with XYY syndrome are typically phenotypically male but may have some associated physical and behavioral characteristics. These individuals are often referred to as "supermales" due to the presence of the extra Y chromosome. This is different from true hermaphroditism, Klinefelter's syndrome, and gonadal dysgenesis, which have distinct chromosomal patterns and manifestations.
Primary hyperaldosteronism is not featured by:
- A. Diastolic hypertension
- B. Paraesthesia
- C. Alkalosis
- D. Oedema
Correct Answer: B
Rationale: Primary hyperaldosteronism, also known as Conn's syndrome, is characterized by excessive production of aldosterone by the adrenal glands, leading to increased sodium reabsorption and potassium excretion in the kidneys. The typical features of primary hyperaldosteronism include hypertension (often systolic), hypokalemia, metabolic alkalosis, and oedema due to sodium retention. Paraesthesia, which refers to abnormal sensations such as tingling or numbness, is not a common feature associated with primary hyperaldosteronism.
Vanillylmandelic acid (VMA) excretion is increased in urine in:
- A. Conn's syndrome
- B. Congenital adrenal hyperplasia
- C. Testicular feminization syndrome
- D. Phaeochromocytoma
Correct Answer: D
Rationale: Vanillylmandelic acid (VMA) is a metabolite of catecholamines, such as epinephrine and norepinephrine. Phaeochromocytoma is a catecholamine-secreting tumor that arises from the chromaffin cells in the adrenal medulla or sympathetic ganglia. As a result of the increased production of catecholamines in patients with phaeochromocytoma, there is an increase in VMA excretion in the urine. This increase in VMA excretion is a significant diagnostic feature of phaeochromocytoma and helps in its detection through urine testing. Therefore, the correct choice is D. Phaeochromocytoma.
What is Addison's disease?
- A. Addison's disease is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones.
- B. Addison's disease involves the overproduction of cortisol and aldosterone by the adrenal cortex.
- C. Addison's disease involves the overproduction of androgens by the adrenal medulla.
- D. Addison's disease involves the underproduction of androgens by the adrenal medulla.
Correct Answer: A
Rationale: Addison's disease, also known as primary adrenal insufficiency, is a condition where the adrenal glands do not produce enough steroid hormones, mainly cortisol and sometimes aldosterone. This deficiency in steroid hormone production is typically caused by autoimmune destruction of the adrenal cortex. Without enough cortisol and aldosterone, various symptoms may arise, such as fatigue, weight loss, low blood pressure, and skin discoloration. Therefore, option A accurately describes the nature of Addison's disease.
Which of the following lung cancers is most commonly associated with the syndrome of inappropriate secretion of antidiuretic hormone (SIADH)?
- A. Squamous cell carcinoma
- B. Small cell (oat cell) carcinoma
- C. Large cell carcinoma
- D. Adenocarcinoma
Correct Answer: B
Rationale: Small cell (oat cell) carcinoma of the lung is most commonly associated with the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). This paraneoplastic syndrome occurs in patients with small cell lung cancer due to the production of antidiuretic hormone (ADH) by the tumor cells. The excessive release of ADH leads to water retention and dilutional hyponatremia, causing symptoms such as nausea, confusion, seizures, and potentially life-threatening complications. Other types of lung cancer, such as squamous cell carcinoma, large cell carcinoma, and adenocarcinoma, are less commonly associated with SIADH.