Endocrinology Exam Questions Related

Review Endocrinology Exam Questions related questions and content

Commonest enzymatic defect for development of congenital adrenal hyperplasia is:

  • A. C-21 hydroxylase deficiency
  • B. 3b dehydrogenase deficiency
  • C. C-11 hydroxylase deficiency
  • D. C-17 hydroxylase deficiency
Correct Answer: A

Rationale: C-21 hydroxylase deficiency is the most common enzymatic defect leading to the development of congenital adrenal hyperplasia (CAH). This enzyme is necessary for the synthesis of cortisol and aldosterone in the adrenal glands. When there is a deficiency in C-21 hydroxylase, the pathway is shifted towards the production of androgens instead of cortisol and aldosterone, leading to excess androgen production. This results in the characteristic features of CAH, such as ambiguous genitalia in females and virilization in both males and females. Other enzyme deficiencies listed in the choices can also lead to different types of CAH but are less common compared to C-21 hydroxylase deficiency.