Question 1 · Paediatrics, Clinical
A newborn girl with ambiguous genitalia is found to have a congenital defect of the enzyme 21-hydroxylase. Which treatment would be given?
- A. Glucocorticoids alone
- B. Glucocorticoids and mineralocorticoids
- C. Anti-androgen alone
- D. Long-acting somatostatin analogue
- E. Dopamine agonist
Show the answer and explanation
Answer: B. Glucocorticoids and mineralocorticoids
Treatment involves administering glucocorticoids and mineralocorticoids to correct the deficiencies in these hormones. Correcting the feedback to ACTH reduces the overproduction of adrenal androgens, and additional anti-androgens can also be given.
Why the other options are wrong
- A. Glucocorticoids alone: Glucocorticoids and mineralocorticoids are both given to correct the deficiencies in these hormones.
- C. Anti-androgen alone: Additional anti-androgens can also be given alongside glucocorticoids and mineralocorticoids.
- D. Long-acting somatostatin analogue: Long-acting somatostatin analogues can be used to see if tumour shrinkage can be achieved in a large non-functional pituitary tumour.
- E. Dopamine agonist: Dopamine agonists reduce prolactin actions and secretion by causing tumour shrinkage.
Key point: A 21-hydroxylase defect is treated with glucocorticoids and mineralocorticoids, which correct the deficiencies and the ACTH feedback that drives adrenal androgen overproduction.
References
- 21-hydroxylase deficiency, MedlinePlus Genetics, US National Library of Medicine
- Consensus statement on management of intersex disorders (2006), Archives of Disease in Childhood (PMC2082839)