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Keywords:

  • Karyotyping;
  • Transsexualism;
  • Prevalence;
  • Chromosomal Abnormalities;
  • Klinefelter Syndrome;
  • Disorders of Sexual Differentiation

ABSTRACT

Introduction.  Karyotyping is often performed in transsexual individuals.

Aim.  Quantification and characterization of karyotype findings and abnormalities in transsexual persons.

Main Outcome Measures.  Karyotypes were listed both in male-to-female and in female-to-male transsexual persons.

Methods.  The data were collected through a retrospective study.

Results.  Karyotypes of 368 transsexual individuals (251 male-to-female, 117 female-to-male) are described. Normal findings were found in 97.55%. Prevalence of abnormal karyotypes was 3.19% among male-to-female, and 0.85% among female-to-male transsexuals. Nine karyotypes showed variations; Klinefelter syndrome was confirmed in three persons, whereas others displayed autosomal aberrations.

Conclusion.  Karyotyping is only of very limited information in the transsexual population. Inoubli A, De Cuypere G, Rubens R, Heylens G, Elaut E, Van Caenegem E, Menten B, and T'Sjoen G. Karyotyping, is it worthwhile in transsexualism? J Sex Med 2011;8:475–478.