Answer :USMLE step 2 Mcq 239:A 16 year old youth is brought to the physician by his mother




Correct Answer: B

Klinefelter syndrome is the principal cause of male infertility. It is found to appear about once in every 500 to one in every 1,000 live born males. The 47XXY complement is the most common chromosomal pattern in persons with Klinefelter Syndrome, although mosaic (i.e. 46XY/47XXY) and variant (i.e. 48XXXY) patterns are also observedAbsence of sperm cells (azoospermia) present in almost all patients. only consistent finding seen in all patients is hypogonadism. Testes is small and atrophied to produce sufficient amounts of testosteroneSpeech and language delay is commonly exhibited by XXY males in early childhood Most XXY males are of normal intelligence, although a somewhat decreased global intelligence has been observed as compared to siblings and controls, which appear related to decreased verbal cognitive skills. Verbal deficits have consistently been observed in childhood and appear to continue into adulthood.Patient’s mental function is normal. There may be impulse control disorder, depression, emotionally disturbed, personality disorder, learning disabilities, and communicatively impaired . Increase in length between the soles & pubic bone is characteristic. This is due to the epiphyseal openings near the joints remaining open longer than is typical. One major factor in the closing of the epiphyseal plate is when testosterone reaches the desired adult levels. Insufficient testosterone in the body of an XXY therefore often prompts the epiphyseal plate to stay open longer than average and to promote long bone growth in the limbs and extremities


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