What are the diagnostic considerations in Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Other causes of hypogonadism should also be considered. These include Kallmann syndrome and 46,XX karyotype (in males). The 46,XX male is caused by translocation of Y material (including the sex-determining region [SRY]) to the X chromosome during paternal meiosis. The presence of SRY on the X chromosome leads to normal male sexual development with male external genitalia, but hypospadias or cryptorchidism may be seen. [39]


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