■Klinefelter综合征(KS)是一种性染色体综合征,通常在男性中具有额外的X染色体(47,XXY),具有各种表型(镶嵌性47,XXY/46,XY,或更多的染色体48,XXXY,49,XXXXY)和临床特征,包括eunuchoid的身体比例,腿和手臂异常长,男性乳房发育症,Ynecommastia,面部和阴毛缺失或减少,小的透明睾丸,小阴茎,低于正常的言语智商,和学习困难。目前,我国尚无KS患者的临床特点与睾丸组织胞内细胞器超微结构改变的相关性研究。
■在这里,我们报告了患有性腺功能减退和雄激素缺乏的KS患者睾丸组织的超微结构表现,寻找细胞器超微结构改变与生精功能障碍的关系,临床特征,手术时机和代谢异常。已显示精母细胞缺失,支持细胞和睾丸间质细胞的超微结构明显异常,这可能会导致生精功能障碍,雄激素缺乏,糖耐量受损(IGT),腹部脂肪堆积.
■基于欧洲男科科学院(EAA)Gudilines对Klinefelter综合征的研究,这项研究对一名成人KS患者的诊断和治疗进行了回顾性研究,旨在为KS患者提供规范化的诊断和治疗。本研究还高度关注靶器官超微结构改变与临床症状的相关性。
UNASSIGNED: Klinefelter Syndrome (KS) is a sex chromosomal syndrome usually with an extra X chromosome (47, XXY) in males, which has various phenotype (mosaicism 47, XXY/46, XY, or more chromosomes 48, XXXY, 49, XXXXY) and clinical features, including eunuchoid body proportions, abnormally long legs and arm span, gynecomastia, ynecomastia, absent or decreased facial and pubic hair, small hyalinized testes, small penis, below-normal verbal intelligence quotient, and learning difficulties. At present, there are no studies on the correlation between the clinical characteristics of patients with KS and the ultrastructural changes of intracellular organelles in testicular tissue in China.
UNASSIGNED: Here we report the
ultrastructure manifestation of the testis tissues in a KS patient with hypogonadism and androgen deficiency, to find a relationship between ultrastructural changes of organelles and spermatogenic dysfunction, clinical features, timing of surgery and metabolic abnormalities. It has been shown that the spermatocytes are absent and the
ultrastructure of Sertoli cells and Leydig cells is obviously abnormal, which may lead to spermatogenic dysfunction, androgen deficiency, impaired glucose tolerance (IGT), and abdominal fat accumulation.
UNASSIGNED: Based on the European Academy of Andrology (EAA) Gudilines on Klinefelter Syndrome, this study conducted a retrospective study on the diagnosis and treatment of one adult patient with KS, aiming to provide a standardized diagnosis and treatment for patients with KS. This study is also highly concerned with the correlation between the ultrastructural changes of target organs and clinical symptoms.