This page is dedicated to organizing various examples of standardized exam questions whose answer is Klinefelter syndrome. While this may seem a odd practice, it is useful to see multiple examples of how Klinefelter syndrome will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional 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 Klinefelter syndrome.
- Male phenotype: if its a female then not Klinefelter!
- Hypogonadism/infertility may be initial presenting complaint.
- Developmental delay may be present as well.
- Physical characteristics:
- Tall and slender features
- Testicular atrophy can be seen (on physical exam or histology)
- Gynecomastia is common
- NO connective tissue issues: this is more along the lines of Marfan syndrome
Question # 1
Explanation # 1
Question # 2
Explanation # 2
TESTABLE FACTS ABOUT THIS CONDITION (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying condition. Often there are specific testable facts regarding some aspect of the disease’s pathophysiology/management/clincial implications that are commonly asked. Some of these are listed below:
- Karyotype: XXY (inactivated X Barr bodies are present)
- Other: Barr bodies will be present.
- Hormone levels:
- Decreased testosterone: due to abnormal Leydig cell function
- Elevated FSH: this is due to decrease in inhibin B (as a result of dysteneiss of seminiferous tubules)
- Elevated LH: due to decreased testosterone
- Elevated estrogen: due to increased estrogen
Page Updated: 04.02.2017