A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysge

来源 :亚洲男性学杂志(英文版) | 被引量 : 0次 | 上传用户:xingzhe1689
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Dear Editor,rnSex in mammals is genetically determined and defined at the cellular level by the sex chromosome constitution (XY males and XX females) and at the phenotypic level by the development of genderspecific anatomy,physiology,and behavior.146,XY complete gonadal dysgenesis (46,XY CGD),first reported by Swyer in 1955,2 is a rare congenital condition with completely or partially disordered gonadal development,leading to discordance between the genetic,gonadal,and phenotypic sex.
其他文献
Dear Editor,rnCongenital bilateral absence of the vas deferens (CBAVD),a complete or partial defect of the Wolffian duct derivatives,is found in >25% of men with obstructive azoospermia (OA),but the underlying pathological mechanism remains poorly underst
期刊
Dear Editor,rnIntrauterine insemination (IUI) is mainly indicated in cases of unexplained or mild male subfertility. In these cases, gonadotropin ovarian stimulation combined with gonadotropin-releasing hormone (GnRH) antagonist IUI leads to up to an 18%
期刊
Late-onset hypogonadism (LOH) has been described as a clinical syndrome comprising symptoms consistent with androgen deficiency and a circulating concentration of testosterone in the low-to-normal range insome middle-aged and elderly men.
期刊
The current literature does not support the usefulness of clinical markers on predicting which patients with atypical small acinar proliferation (ASAP) are more likely to progress to prostate cancer (PCa). Androgens have long been considered to be the pot
Urge urinary incontinence (UUl) is one of the most troublesome complications of surgery of the prostate whether for malignancy or benign conditions.For many decades,there have been attempts to reduce the morbidity of this outcome with variable results.Sin
Autologous tissue engineering using biodegradable scaffolds as a carrier is a well-known procedure for penile girth enhancement. We evaluated a group of previously treated patients with the aim to analyze histomorphometric changes after tissue remodeling
We evaluated contemporary trends in radical prostatectomy (RP) in men aged >70 years and investigated associations of selected variables with recovery of urinary continence (UC) in two age groups:>70 and ≤70 years.A retrospective cohort of 2301 eligible p
Angiotensin-converting enzyme functions in the male reproductive system, but the extent of its function in reproduction is not fully understood. The primary objective of this work was to investigate the relationship between the testicular isoform of angio
The present study aimed to identify which mitogen?activated protein kinase (p38 or Jun amino?terminal kinase [JNK]) was involved in cavernosal apoptosis during the acute phase after cavernosal nerve crush injury (CNCI) in rats to ameliorate apoptosis of c