Exam questionKROK 1Medicine · 2013
A 35-year-old male patient has been referred by an andrologist for the genetic counselling for the deviations of physical and mental development. Objectively: the patient is tall, has asthenic constitution, gynecomastia, mental retardation. Microscopy of the oral mucosa cells revealed sex chromatin (single Barr body) in 30% of cells. What is the most likely diagnosis?
Answer options
- Recklinghausen’s disease
- Down syndrome
- DiGeorge syndrome
- Cushing pituitary basophilism
- Klinefelter syndrome
Correct answer
Klinefelter syndrome
Explanation
Klinefelter’s syndrome- 47 XXY. A condition in which there is an addition of a Barr body in the male karyotype.
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