A patient of 47 XXY karyotype presents with features of hypogonadism; likely diagnosis is :: (A) Turners syndrome, (B) Klinefelters syndrome, (C) Edwards syndrome, (D) Down syndrome
Answer is B. Ans. is b i.e. Klinefelter syndrome Extra Edge : Klinefelter's syndrome ? Seen in 1 : 500 malesdeg Karyotype 47XXY (1 barr body present)deg Phenotype maledeg Gonads : Testis, small but normally placeddeg Genitalia : Penis is small/ normal size. Gynaecomastia is frequently seendeg Sterility is commondeg Voice : High pitched and appearance may be eunuchoid Patient is mentally defective or delinquentdeg. Testicular biopsy shows hyaline degeneration of seminiferous tubules and over growth of leydig cells, as a result of which stelirity is so often the presenting symptom The person should be broughtup as male.deg Treatment with testosterone may help.