Cytogenetic and Microarray Analysis of Eunuchs

Eunuchs are people with abnormal sexual behaviour, uncharacterized sex, neither male nor female and known as transgender people. They have abnormal or non-functional external genitalia. XX male syndrome, also known as De la Chapelle syndrome, is a rare congenital intersex condition where an individual with a 46, XX karyotype has phenotypically male characteristics that vary among cases. SRY gene plays an important role in sex differentiation along with other genes such as SOX9, DAX1, WT1, WNT4 and FGF9. The rarest form of the genetic abnormality- 46, XX sex reversal is caused by random genetic mutations. Materials and Methods: Peripheral blood leukocyte culture and microarray analysis were performed for the present study. Results: Two cases of 46, XX male sex reversal without the SRY gene was reported out of 36 unrelated blood samples of eunuchs. None of the patients had autosomal sex reversal hence neither autosomal nor X-linked genes are involved in it. Conclusion: Sex reversal may be one of the causes of the development of eunuchism.