Shiraishi Koji, Matsuyama Hideyasu
Department of Urology Yamaguchi University School of Medicine Ube Japan.
Reprod Med Biol. 2018 Dec 8;18(2):140-150. doi: 10.1002/rmb2.12261. eCollection 2019 Apr.
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.
克兰费尔特综合征（KS）是非梗阻性无精子症（NOA）的主要病因之一。通常会进行显微外科睾丸精子提取术（micro-TESE）来获取精子。不孕症专科医生必须对KS患者进行终身护理。
基于文献综述和我们自己的经验，从终身角度考虑男性不育治疗和KS的病理生理学。
早期诊断的患者通常有更多异常的X染色体。常发现隐睾症和尿道下裂，需要进行手术矫正。青春期期间睾丸精子的冷冻保存是一个有争议的问题，因为KS患者的精子获取率（SRR）会随着年龄增长而下降。成年KS患者的SRR高于其他NOA患者；然而，micro-TESE后睾酮水平较低会降低总体健康状况和生活质量。KS男性面临多种合并症，如恶性肿瘤、代谢综合征、糖尿病、心血管疾病、骨病和免疫疾病，这最终导致死亡率增加。
在KS患者寻求不育治疗之前，更深入地了解KS的病理生理学和患者病史（有时需要与多学科团队进行讨论）将有助于正确治疗这些患者。
