A 16-year-old girl presents with primary amenorrhoea. She has normal secondary sexual characteristics (Tanner stage IV breast development and pubic hair) but has no uterus on ultrasound. Karyotype is 46,XX. The MOST likely diagnosis is:

• A Turner syndrome (45,X0)
• B Complete androgen insensitivity syndrome (CAIS)
• C Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome ✓
• D Kallmann syndrome

Explanation

MRKH syndrome (Müllerian agenesis) presents with primary amenorrhoea, 46,XX karyotype, absent uterus and upper vagina, but normal ovaries and secondary sexual characteristics (because ovarian function is intact). CAIS also has absent uterus but the karyotype is 46,XY. Turner syndrome presents with 45,X0 and absent secondary sexual characteristics. Kallmann syndrome features anosmia and hypogonadotropic hypogonadism with normal uterine anatomy.

Reference: Shaw's Textbook of Gynaecology, 17th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.