Least common cause of ambiguous genitalia in females – Paediatrics MCQ

Collection of Medicine MCQs (Cardiovascular system) for medical students. Concept based MCQs with detailed explanations which help students to gain valuable insights and gain an edge in competitive examinations. More than just answering MCQs, the explanations will improve the knowledge and understanding about the conditions discussed. Also useful for MD students who are preparing for Superspeciality entrance examinations. Medicine MCQs - Cardiovascular System Kindle Edition: Click Here for a Preview. Comments and suggestions are most welcome.

Least common cause of ambiguous genitalia in females?
A. 21 hydroxylase deficiency
B. 11 hydroxylase deficiency
C. WNT4 gene mutation
D. Foetal placental steroid sulfatase deficiency

Correct answer : D. Placental steroid sulfatase deficiency

Ambiguous genitaliaAmbiguous genitalia of a preterm infant, showing clitoromegaly and hyperpigmentation.

  • Foetal placental steroid sulfatase deficiency is a rare X-linked condition, and is seen only in males.
  • It is not a cause for development of ambiguous genitalia in females.
  • The most common cause of ambiguous genitalia in females is Congenital Adrenal Hyperplasia (CAH).
  • It is responsible for about 70% of cases.
  • 21 hydroxylase deficiency  and 11 hydroxylase deficiency are subtypes of CAH.
  • Other causes include WNT4 mutation and foetal placental aromatase deficiency.

Image credits: Diabetic fetopathy associated with bilateral adrenal hyperplasia and ambiguous genitalia: a case report. Journal of Medical Case Reports. 2008; 2 : 251. doi:10.1186/1752-1947-2-251

Add a Comment

Your email address will not be published. Comments will be displayed only after moderation.

Read previous post:
JIPMER PG entrance topper interview: Dr.Saif Memon, 20th Rank, Nov 2014

We have with us today, Dr. Saif Memon who secured the 20th rank in the JIPMER PG entrance exam, Nov...

Close