Congenital Adrenal Hyperplasia (CAH): Genetics and Symptoms

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18 Questions

What is the primary cause of Congenital Adrenal Hyperplasia (CAH)?

21-hydroxylase deficiency

What is the result of androgen excess in female patients with Congenital Adrenal Hyperplasia (CAH)?

Masculinization of the body

What is the treatment for Hypoaldosteronism?

Replacement hormone medication

What is a major cause of Adrenal Insufficiency?

Pituitary tumor

What is the effect of excess adrenal androgens on normal adult men?

No significant effect

What is the primary symptom of Adrenal Insufficiency?

Fatigue

What is the approximate incidence of Addison disease per 1 million people?

40-60 cases

Which of the following is NOT a symptom of adrenal crisis in Addison disease?

Hyperkalemia

What is the primary goal of treatment in primary adrenal insufficiency?

To replace the missing cortisol and aldosterone

Which of the following is a characteristic of primary adrenal insufficiency but NOT secondary adrenal insufficiency?

Hyperpigmentation of skin

What is the probable cause of androgen deficiency in Addison disease?

Insufficient production of DHEA

What is the term for the congenital defect in which the adrenal glands produce excessive amounts of androgens?

Congenital adrenal hyperplasia

What is the primary cause of Addison disease?

Atrophy or destruction of both adrenal glands

What is the treatment for Hypoaldosteronism?

All of the above

What is the underlying cause of Congenital adrenal hyperplasia?

21-hydroxylase deficiency

What is the primary cause of Adrenal insufficiency?

Atrophy or destruction of both adrenal glands

What is the symptom of Androgen excess?

Cushing’s syndrome

What is the effect of CAH on cortisol and aldosterone production?

Lack of cortisol and aldosterone

Test your knowledge on Congenital Adrenal Hyperplasia (CAH), a group of inherited genetic disorders caused by 21-hydroxylase deficiency, and its effects on genital development, growth, and hormonal imbalance in both males and females. Learn about the symptoms and characteristics of CAH.

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