Androgen Insensitivity Syndrome

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Step 1: View clinicals

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 all relevant investigations

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.

Karyotype Analysis

The karyotype is found to be 46 XY

Serum FSH and LH

LH: high normal FSH: normal

17alpha-hydroxylase levels

17alpha-hydroxylase levels are within normal parameters.


Step 3: Select appropriate management

Hormone Replacement Rx
Counselling
Gonadectomy
Androgens


Score: ★★☆