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.
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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