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.
Step 2: Order Relevant Investigations
1. Ultrasound Abdomen
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.
2. Karyotype Analysis
The karyotype is found to be 46 XY
3. Serum FSH and LH
LH: high normal
4. 17alpha-hydroxylase levels
17alpha-hydroxylase levels are within normal parameters.