Novel Approaches in the Management of Klinefelter Syndrome

Abstract

Klinefelter syndrome (KS) is the most frequent sex chromosomal anomaly that occurs in about 85-223 males per 100, 000 live-born males and occurs mostly due to meiotic nondisjunction. The clinical presentation of KS patients varies according to the age of the patient and his phenotypic expression that manifests as a variety of symptoms due to androgen deficiency that characterize the syndrome. In addition to compromised testicular function and hypogonadism, KS patients are also at an increased risk of metabolic disturbances, such as type 2 diabetes mellitus and cardiovascular disease. They also present with cognitive and psychiatric disturbances. However, it is estimated that only 25-40% of the subset of patients with KS are ever diagnosed and only around 10% of these patients are identified during their childhood and adolescent years. The reason behind the underdiagnosis of KS can be explained by the wide variability in its presentation requiring a great deal of conjecture from the clinician caring for such patients. A multidisciplinary approach toward the management of KS patients is essential to encounter the multiple features of the disease. The hypogonadism in KS patients needs to be treated by testosterone replacement (TRT) at some point during the course of the therapy. Cryopreservation of sperm is offered to the adolescent KS patients who are able to provide a semen sample. Pharmacological therapy with aromatase inhibitors prior to microsurgical testicular sperm extraction has the highest sperm retrieval rates in azoospermic men.