Journal of Clinical Case Reports

Male Infertility and Klinefelter Syndrome (47, XXY)

Abstract

Paul L Cummins, Connor Harrity, David J Walsh and Kevin J Marron

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. The symptoms associated with KS vary greatly and many males with KS are never diagnosed or treated. Affected individuals typically have small testes that do not produce as much testosterone as usual. Reduced testosterone can impact reproductive maturation greatly and can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Puberty is a time of rapid physical and psychological change, and hormone replacement treatment can successfully limit and reduce the symptoms of KS. This case report encompasses a routine fertility evaluation in which a 38 year old Caucasian male was diagnosed with Klinefelter Syndrome (KS) and pronounced infertile. The case highlights the relative lack of awareness surrounding KS and the options which may enable KS males to produce healthy offspring.