Endocrinology Exam Questions and Answers Related

Review Endocrinology Exam Questions and Answers related questions and content

Commonest cause of 'ambiguous genitalia' in newborn is:

  • A. Congenital adrenal hyperplasia
  • B. True hermaphroditism
  • C. Testicular ferminisation syndrome
  • D. Pseudo-hermaphroditism
Correct Answer: A

Rationale: Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in newborns. This condition is due to a deficiency of enzymes in the adrenal gland that are necessary for the production of cortisol. As a result, the body produces excess androgens (masculinizing hormones), leading to abnormal genital development in females. The external genitalia may appear ambiguous, with features of both male and female genitalia. This condition can be detected through newborn screening and confirmed through further hormonal and genetic testing. Treatment involves hormone replacement therapy to normalize hormone levels and surgery may be required to reconstruct the genitalia.