Abstract
Klinefelter Syndrome (KS) is a sex chromosome abnormality causing a variety of clinical features and infertility. KS occurs when a male individual has an extra X chromosome resulting in a karyotype of 47,XXY. Much research has been done to look at the fertility of men with KS and in the mid-1990s a surgical technique, testicular sperm extraction (TESE), was shown to be effective in preserving the fertility of some men. Less is understood about the experiences of the men who utilize this procedure. The purpose of this study was to explore the experiences of men with KS who have undergone TESE to understand the decision making process and to identify opportunities to support men with KS undergoing this process. Individuals 18 years and older with self-reported KS (n=2) were recruited from an online support network and by word-of-mouth to participate in a semi-structured interview focusing on the feelings about TESE, the challenges they faced with their condition, and the supports they utilized. The main motivation for undergoing TESE was a desire for biological children. Participants reported a number of different challenges including: coping with the clinical features of KS phenotype, acceptance of their infertility after a failed TESE procedure, passing on KS and the need for hormone\r v\r supplementation. The supports these men utilized included: parents, a partner, and other non-familial supports, such as physicians and online support groups. None of the men in this study were offered an appointment with a genetic counselor. However, genetic counselors may have a role in the care of a man with KS by helping men with KS through the decision making process to undergo TESE, setting reasonable expectations for the procedure and providing support after the procedure.