Managing infertility in patients with Klinefelter syndrome

Klinefelter syndrome (KS) is the most frequent chromosomal abnormality with a prevalence of 150 per 100,000 males. It is now well known that the phenotype of Klinefelter adults varies from individual to individual and one registry study indicates that approximately 75% of KS subjects are not diagnosed probably because of very mild phenotypes. Due to seminiferous tubule fibrosis KS patients have small testes and are infertile because of azoospermia (>90%) or severe oligozoospermia (<10%). Adoption or heterologous insemination has been used in the past to achieve paternity. Currently it is well known that with TESE/micro-TESE (TESE = TEsticular Sperm Extraction) spermatozoa can be found in the testes of 28-67% of KS patients. Predictive factors of sperm retrieval success/failure, such as reproductive hormone plasma levels, testis volume and age, have been evaluated without any positive results. By combining TESE/micro-TESE with intracytoplasmic sperm injection an average of 50% of these patients have the possibility of fathering children and the birth of more than 150 children with normal karyotype has been reported in the last 20 years. However couples with a Klinefelter partner must be informed of the increased risk of autosomal/sex chromosomes aberrations in the sperm and embryos and of the possibility of preimplantation genetic diagnosis which is currently suggested by a minority of authors.