Archive Of Standardized Exam Questions: Turner Syndrome


This page is dedicated to organizing various examples of standardized exam questions whose answer is Turner syndrome. While this may seem a odd practice, it is useful to see multiple examples of how Turner 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. 


When it comes to standardized exams, each topic 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 Turner syndrome

  • Short stature
  • Primary amenorrhea
  • Cystic structure in the neck: cystic hygroma can be seen in new borns.   

Question # 1

A 18 year old girl is brought to the clinic by her mother because she has never had a menstrual period, and also has not developed breasts. The patient is not sexually active, and is taking no medications. She is 4 ft. 1 inch tall, and weights 105 lb (BMI 31 kg/m²). Her blood pressure is 120/65 mm Hg. Breast development is Tanner stage 1. The thyroid gland is not enlarged on physical exam. There is a grade 3/6 continuous murmur heard best over the midsternal border and back. A pelvic exam show uno abnormalities, and no palpable masses were noted by the physician. What is a likely reason for the patient’s clinical presentation?

Explanation: primary amenorrhea + delayed puberty + short stature =  Turner syndrome

Question # 2

A 14 year old girl is brought to the clinic because she has never had a menstrual period. He pubic and axillary hair first were noticed when she was 11 years old. Her breast development began at 12. Her height is equivalent to that of a 7 year old girl. Her blood pressure is 135/100 mm Hg, breast development is Tanner stage 2, and pubic hair development is Tanner stage 4. There is modest axillary hair growth. Her femoral pushes are weak. What might be the reason for this patient’s presentation?

Explanation: primary amenorrhea + short stature =  Turner syndrome

Question # 3

A 17 year old girl is brought to the clinic because she has not gone through puberty or had a menstrual period yet. Since her birth, this patient has been below the 3rd percentile for both her height and weight. When she was 11 years old she received X-rays that revealed that her bone age was concordant with her chronologic age. Her mother is 5 ft 5 in, and began menses at the age of 12. Her father is 5 ft 10 in. The patient is 4 ft 9 in. Her BMI is 24 kg/m². Her blood pressure is 120/80 mm Hg, her heart rate is 80/min, and blood pressure is 120/80 mm Hg. A physical exam shows multiple nevi that are present all over her face and trunk. There is bilateral pedal edema appreciated when examining the extremities. Breast development and pubic hair development is Tanner stage 1. What is the most likely diagnosis?

Explanation: primary amenorrhea + delayed puberty + short stature =  Turner syndrome

Question # 4

A 11 year old girl is brought to the pediatrician because she is “feeling blue”. Her mother explains that she has recently become more withdrawn and often goes to her room to cry alone. When interviewed by herself the girl explains that she is being bullied relentless at school. Because of her short stature many of the children have began calling her names like “dwarf” or “midget”. In her frustration she explains that she is even shorter then her 7 year old younger brother, which has her quite upset, especially because both of her parents are above 6 ft in height. On exam the patient’s height and weight are in the 5th percentile and 60th percentile respectively. Her blood pressure is 145/90 mm Hg in the right upper arm, and 90/45 mm Hg in her lower extremities. What is the most likely diagnosis in this patient?

Explanation: short stature + signs of coarctation of aorta (blood pressure high in upper/low in lower extremities) = Turner syndrome


Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:

  • Karyotype: XO (only one copy of X chromosome is inherited. 


Page Updated: 10.18.2016