MCQ 3
A 16 year old youth is brought to the physician by his mother. She 
claims he has been very depressed lately and attributes this to teasing 
from school friends because he is so tall.Since he is usually rather 
impulsive and tends to have bursts of sudden anger ,she is worried he 
may retaliate violently and get 'into a big fight'. During his childhood
 he had severe language deficits and very significant academic 
difficulties .The mother also stated that a genetic study carried out 
during childhood showed the karyotype to be 47xxy. During the course of 
examination, he is noted to have a small testes . This boy most likely 
has
a) Down's syndrome 
b) Klinefelter's syndrome 
c) Turner's syndrome 
d) Edward's syndrome 
e) Marfan's syndrome
Correct Answer: 
b) Klinefelter's syndrome
Explanation:
 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.