This page is dedicated to organizing various examples of standardized exam questions whose answer is androgen insensitivity syndrome. While this may seem a odd practice, it is useful to see multiple examples of how androgen insensitivity syndrome will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a tradition question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each condition has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for androgen insensitivity syndrome.
- Primary amenorrhea: patients with this condition will have never had a menstrual period
- Short vaginal canal will be appreciated
- Absent uterus/ovaries: these will not be felt on the exam or seen on any imaging. A cervix will not be seen on the exam either (by extension).
- Normal/functional testes develop although they may be undescended (cryptochordism) or are found in the labia majora.
- Elevated testosterone, estrogen, and LH
Question # 1
A 16 year old girl comes to the clinic because she has yet to have her first period. She explains that all of her friends whoa re girls have already gotten theirs, and she feels “left out”. She is not currently sexually active, and does not use any alcohol, tobacco products, or illicit medications. The patient’s weight and height are within normal limits for her age. Upon physical examination, she is Tanner stage 4 for breast development, and has minimal axillary/pubic hair. Her external genitalia appear to be unremarkable, however the vagina is short and the physician is unable to visualize the cervix. During the bimanual exam the ovaries and uterus are not palpable. What is the likely diagnosis for this patient?
Explanation: primary amenorrhea + short vaginal canal + no cervix visualized + absent ovaries/uterus = androgen insensitivity syndrome
A 16-year old girl is brought to the clinic by her father because she has never had a menstrual period. She is otherwise healthy and doing well. She is 5 ft 10 in tall and weighs 140. Breast development is Tanner stage 3. No axillary or pubic hair is seen. Pelvic examination shows a vagina that is about 2 cm in length. Pelvic ultrasound shows no uterus. What is the likely diagnosis?
Explanation: primary amenorrhea + short vaginal canal + absent uterus = androgen insensitivity syndrome
COMMONLY ASKED QUESTIONS ABOUT THIS CONDITION (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying condition. Often there are specific testable questions regarding some aspect of the diseases pathophysiology/management/clincial implications that are commonly asked. Some of these are listed below:
- What is the mutation responsible for this condition? X-linked mutation of the androgen receptor
- What do we do with the testicles? These are removed surgically to prevent the chance for malignancy.
Page Updated: 10.05.2016