Commentary on: A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens
نویسندگان
چکیده
منابع مشابه
CFTR Mutations in Congenital Absence of Vas Deferens
A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...
متن کامل[Congenital unilateral absence of the vas deferens].
A 10-year-old boy with cystic fibrosis (CF) (DeltaF508/G551D mutation) underwent an uneventful elective interval laparoscopic appendectomy. During routine laparoscopic inspection of the abdomen and groins, congenital bilateral absence of the vas deferens was noted. Pictures of the patient's internal inguinal ring noted at time of laparoscopy are presented and compared with a similar-aged patien...
متن کاملCongenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection.
The aim of this study was to assess the outcome of intracytoplasmic sperm injection (ICSI) with fresh and frozen-thawed surgically retrieved spermatozoa from men diagnosed with congenital bilateral absence of the vas deferens (CBAVD). Twenty-seven azoospermic men with their partners were treated [25 with CBAVD and two with clinical cystic fibrosis (CF)]. CF gene mutation analysis and genetic co...
متن کاملMutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.
BACKGROUND Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown. METHODS We investigated 51 Turkish males who had been diagnosed with CBAVD at the Hacettepe Universi...
متن کاملMutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
BACKGROUND Clinically affected cystic fibrosis (CF) patients present a spectrum of genital phenotypes ranging from normal fertility to moderately impaired spermatogenesis and congenital bilateral absence of vas deferens (CBAVD). Little is known about the CF incidence in the Taiwanese population. It has been shown that the CBAVD in men without clinical evidence of CF is associated with a high in...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2020
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-020-01834-2