Klinefelter syndrome: From pediatrics to geriatrics

Klinefelter syndrome (KS) is one of the major causes of nonobstructive azoospermia (NOA). Microdissection testicular sperm extraction (micro-TESE) is often performed to retrieve sperm. Infertility specialists have to care for KS patients on a lifelong basis.

Based on a literature review and our own experience, male infertility treatment and KS pathophysiology were considered on a lifelong basis.

Patients diagnosed early often have an increased number of aberrant X chromosomes. Cryptorchidism and hypospadias are often found, and surgical correction is required. Cryopreservation of testicular sperm during adolescence is an issue of debate because the sperm retrieval rate (SRR) in KS patients decreases with age. The SRR in adult KS patients is higher than that in other patients with NOA; however, low testosterone levels after micro-TESE will lower the general health and quality of life. KS men face a number of comorbidities, such as malignancies, metabolic syndrome, diabetes, cardiovascular disease, bone disease, and immune diseases, which ultimately results in increased mortality rates.

A deeper understanding of the pathophysiology of KS and the histories of KS patients before they seek infertility treatment, during which discussions with multidisciplinary teams are sometimes needed, will help to properly treat these patients.