Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare–Stevenson Syndrome
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 کاملA case of Klinefelter's syndrome with bilateral absence of the vas deferens.
A 33-year-old male presented to the Chiba University Hospital with the main complaint of right flank pain. Bilateral vas deferens were not palpable. Hormonal examination revealed hypergonadotropic hypogonadism and cytogenetic studies a 47,XXY karyotype. The significance of the association of this karyotype with the absence of vas deferens is discussed.
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 کاملA case of congenital unilateral absence of the vas deferens
BACKGROUND Congenital unilateral absence of the vas deferens occurs in 0.5%-1.0% of males. It has been associated with various genitourinary abnormalities, including renal agenesis. We report a case of congenital unilateral absence of the vas deferens found incidentally during vasectomy in a patient with known unilateral renal agenesis. CASE PRESENTATION A 24-year-old male presented to our ur...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2020
ISSN: 1664-8021
DOI: 10.3389/fgene.2020.00104