Question

A 16-year-old girl presents with primary amenorrhoea. She has a normal height, well-developed breasts, but scanty pubic and axillary hair. Ultrasound confirms the presence of testes and absence of a uterus and ovaries. Karyotyping reveals 46,XY. What is the most likely diagnosis?

Accepted Answer

Complete Androgen Insensitivity Syndrome (CAIS)

Answer

Turner Syndrome (45,X)

Answer

Klinefelter Syndrome (47,XXY)

Answer

Congenital Adrenal Hyperplasia (CAH)

Answer

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome

Practice question

A 16-year-old girl presents with primary amenorrhoea. She has a normal height, well-developed breasts, but scanty pubic and axillary hair. Ultrasound confirms the presence of testes and absence of a uterus and ovaries. Karyotyping reveals 46,XY. What is the most likely diagnosis?