A patient of 47 XXY karyotype presents with features of hypogonadism; likely diagnosis is :
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.
Turners syndrome
Klinefelters syndrome
Edwards syndrome
Down syndrome