Lecture 4 MCQ Biochem
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Questions and Answers

Which one of the following is a characteristic of Conn's syndrome?

  • Deficiency of cortisol
  • Deficiency of aldosterone
  • Excess secretion of cortisol
  • Excess secretion of aldosterone (correct)

What is the effect of Conn's syndrome on water and electrolyte balance?

  • Decreased water retention and decreased potassium excretion
  • Increased water retention and decreased potassium excretion (correct)
  • Decreased water retention and increased potassium excretion
  • Increased water retention and increased potassium excretion

How can a diagnosis of primary hyperaldosteronism be confirmed?

  • Measurement of plasma aldosterone levels
  • Measurement of plasma sodium levels
  • Measurement of plasma renin levels (correct)
  • Measurement of plasma cortisol levels

Which enzyme is deficient in the case of 11 beta hydroxylase deficiency?

<p>11 beta hydroxysteroid dehydrogenase (D)</p> Signup and view all the answers

What is the expected level of serum 17-(OH)-progesterone in the case of 11 beta hydroxylase deficiency?

<p>1000 (A)</p> Signup and view all the answers

What is the expected level of 24 h urine pregnanetriol in the case of 11 beta hydroxylase deficiency?

<p>2.8 (A)</p> Signup and view all the answers

Will renin be elevated in the case of 11 beta hydroxylase deficiency?

<p>Yes (C)</p> Signup and view all the answers

Which of the following is a direct effect of aldosterone?

<p>Increased thirst (C)</p> Signup and view all the answers

Which of the following is a primary cause of hyperaldosteronism?

<p>Adrenal adenoma (A)</p> Signup and view all the answers

What is the primary stimulus for aldosterone secretion?

<p>Low circulating volume (C)</p> Signup and view all the answers

How can primary hyperaldosteronism be diagnosed?

<p>All of the above (D)</p> Signup and view all the answers

Which of the following is the primary stimulus for aldosterone secretion in the renin-angiotensin system?

<p>Decreased renal blood flow (A)</p> Signup and view all the answers

Which of the following is a consequence of excess aldosterone secretion?

<p>Metabolic alkalosis (C)</p> Signup and view all the answers

Which of the following factors independently stimulates aldosterone secretion?

<p>Plasma potassium levels (C)</p> Signup and view all the answers

What is the main role of aldosterone in the body?

<p>Maintaining sodium and water balance (D)</p> Signup and view all the answers

Which enzyme deficiency is the most common cause of Congenital Adrenal Hyperplasia (CAH)?

<p>21 hydroxylase deficiency (A)</p> Signup and view all the answers

Which hormone is primarily affected in CAH?

<p>Cortisol (C)</p> Signup and view all the answers

What is the main effect of severe 21 hydroxylase deficiency on aldosterone synthesis?

<p>Variable effect on aldosterone synthesis (D)</p> Signup and view all the answers

What is the main effect of severe 21 hydroxylase deficiency on androgen synthesis?

<p>Increased androgen synthesis (D)</p> Signup and view all the answers

Which of the following is a characteristic of adrenal adenomas and carcinomas compared to FHA and unilateral hyperplasia?

<p>All of the above (D)</p> Signup and view all the answers

Which gene is involved in the unequal crossing over between 11b hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes in Familial Hyperaldosteronism type I (FHI)?

<p>Both CYP11B1 and CYP11B2 (C)</p> Signup and view all the answers

Which of the following drugs inhibits 11 beta hydroxysteroid dehydrogenase and can lead to increased aldosterone levels?

<p>Liquorice (A)</p> Signup and view all the answers

Which of the following is a common finding in primary hyperaldosteronism?

<p>Low plasma potassium (B)</p> Signup and view all the answers

What is the expected urine potassium level in a patient with an adrenal tumor causing primary hyperaldosteronism?

<p>High (A)</p> Signup and view all the answers

What is the cause of Liddle's syndrome?

<p>Mutations in eNAC in renal tubule cells (B)</p> Signup and view all the answers

What is the primary cause of hyperaldosteronism in Bartter's syndrome?

<p>Impaired ADH responsiveness (C)</p> Signup and view all the answers

Study Notes

Characteristics of Conn's Syndrome

  • Hypertension and hypokalemia are characteristic of Conn's syndrome
  • Conn's syndrome is a consequence of excess aldosterone secretion

Effect on Water and Electrolyte Balance

  • Excess aldosterone secretion leads to water retention and potassium depletion
  • This can result in hypokalemia and hypertension

Diagnosis of Primary Hyperaldosteronism

  • Primary hyperaldosteronism can be diagnosed with adrenal vein sampling
  • This is used to lateralize aldosterone secretion to one adrenal gland

11 Beta Hydroxylase Deficiency

  • 11 beta hydroxylase deficiency is an autosomal recessive disorder
  • 11 beta hydroxylase is an enzyme involved in cortisol synthesis
  • Deficiency of this enzyme leads to increased levels of 17-alpha-hydroxyprogesterone
  • This results in virilization and hypertension

Serum and Urine Levels in 11 Beta Hydroxylase Deficiency

  • Serum 17-alpha-hydroxyprogesterone levels are elevated in 11 beta hydroxylase deficiency
  • 24-hour urine pregnanetriol levels are also elevated in this condition
  • Renin levels are decreased in 11 beta hydroxylase deficiency due to volume expansion

Effects of Aldosterone

  • Aldosterone stimulates sodium reabsorption and potassium excretion in the distal nephron
  • This leads to hypertension and hypokalemia

Causes of Hyperaldosteronism

  • Primary hyperaldosteronism is caused by adrenal adenoma or carcinoma
  • Secondary hyperaldosteronism is caused by renovascular disease or reninoma

Regulation of Aldosterone Secretion

  • Aldosterone secretion is stimulated by angiotensin II, potassium, and ACTH
  • The renin-angiotensin-aldosterone system is the primary regulator of aldosterone secretion

Diagnosis of Congenital Adrenal Hyperplasia (CAH)

  • CAH is caused by 21 hydroxylase deficiency in 90% of cases
  • CAH leads to virilization and ambiguous genitalia in females

Effects of 21 Hydroxylase Deficiency

  • 21 hydroxylase deficiency leads to decreased aldosterone synthesis
  • This results in salt wasting and hypotension
  • 21 hydroxylase deficiency also leads to increased androgen synthesis
  • This results in virilization and ambiguous genitalia in females

Adrenal Tumors

  • Adrenal adenomas and carcinomas are frequently unilateral
  • They are characterized by unilateral adrenal hyperplasia

Familial Hyperaldosteronism Type I (FHI)

  • FHI is caused by unequal crossing over between CYP11B1 and CYP11B2 genes
  • This results in the ectopic expression of aldosterone synthase in the adrenal zona fasciculata

Inhibitors of 11 Beta-Hydroxysteroid Dehydrogenase

  • Glycyrrhetinic acid inhibits 11 beta-hydroxysteroid dehydrogenase
  • This leads to increased aldosterone levels and hypertension

Primary Hyperaldosteronism

  • Primary hyperaldosteronism is characterized by hypertension and hypokalemia
  • Urine potassium levels are decreased in primary hyperaldosteronism

Liddle's Syndrome

  • Liddle's syndrome is caused by activating mutations of the beta subunit of the epithelial sodium channel
  • This results in excessive sodium reabsorption and hypertension

Bartter's Syndrome

  • Bartter's syndrome is caused by mutations of the thick ascending limb of the loop of Henle
  • This results in excessive potassium wasting and hypokalemia

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Test your knowledge on aldosterone deficiency, deoxycorticosterone, virilization, hypertension, and urinary 17-hydroxycorticosteroids. Explore the differences from 11 b hydroxysteroid dehydrogenase and learn about pregnenolone, progesterone, 11-deoxycorticosterone, corticosterone, and aldosterone. Take the quiz now!

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