A 16 year old girl is brought in by her parents, as she has not attained menarche. There are no other complaints.
Her medical, surgical and family histories are unremarkable. She is not on any drugs.
The vagina is 4 cm in length, and blind ended. The uterus, fallopian tubes and ovaries cannot be visualized. There are B/L solid masses in the inguinal region, ~3 cm in diameter each, with peripheral cystic areas.
The karyotype is found to be 46 XY
LH: high normal
FSH: normal
17alpha-hydroxylase levels are within normal parameters.