A young female presented to you with primary amenorrhea. Examination reveals normal breast development and absent axillary hairs. Pelvic examination shows a normally developed vagina with clitoromegaly. On ultrasound, gonads are visible in the inguinal region. What is the most likely diagnosis?
Correct Answer: Partial androgen insensitivity syndrome
Description: Ans. is b, i.e. Partial androgen insentivity syndromeIn the question patient has 1deg amenorrhea:* Breast development is normal and absent axillary hair. (This means it cannot be Mayer Rokitansky kiister hauser syndrome --where Breast and pubic as well as axillary hair are well developed and it cannot be Gonadal dysgenesis as none of the secondary sexual characteristics are developed in it).We are left with 2 options:Option a --Complete androgen insensitivityOption b --Partial androgen insensitivityIn both these conditions --Breast development will be normal and pubic hair and axillary hair will be absent but clitoromegaly will be seen in partial androgen insensitivity only.
Category:
Gynaecology & Obstetrics
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