This malformation is present in patients with a sterile obstructive azoospermia but without clinical evidence of cystic fibrosis. [ncbi.nlm.nih.gov]

• Hemophilia A

  Hemophilia with inhibitors is more common in people with hemophilia A (20%-30%) than hemophilia B (up to 6%). [rarebleedingdisorders.com]

• Infertility

  However, management of male infertility due to CBAVD should not ignore a mild form of cystic fibrosis. We describe the case of cystic fibrosis late diagnosis performed in a 49-year-old infertile men with CBAVD. [ncbi.nlm.nih.gov]

  Symptoms Of Absence Of Vas Deferens Patients with bilateral absence of vas deferens are infertile. In some males the symptoms can be independent if there is no association with cystic fibrosis. [tandurust.com]

  The most common complication of Congenital Bilateral Absence of Vas Deferens is infertility. [dovemed.com]

• Recurrent Sinusitis

  Associated cystic fibrosis : Infertility Recurrent sinusitis Chronic problems related with respiratory tract. Chronic health problems of gastrointestinal tract. Less production of pancreatic enzymes which help in digestion of food. [tandurust.com]

• Sweating

  In all, 38% of the patients had a positive sweat test. Four patients were diagnosed with typical CF not detected previously. [ncbi.nlm.nih.gov]

  CFTR was widely expressed in epithelial cells of exocrine tissues, such as the sweat glands, lungs, and vas deferens [ 10 ]. [jclinbioinformatics.biomedcentral.com]

  Except for childhood pneumonia that individual had no typical CF symptoms and exhibited sweat electrolytes in the normal range. [nature.com]

[…] athyreosis should be differentiated from severe hypoplasia and ectopic thyroid either clinically (by scintiscan) or postmortem Thyroid dysgenesis is often being a part of complex syndrome with extrathyroid comorbidities, which needs further diagnostic workup [pathologyoutlines.com]

[…] the following: Granulomatous disease – Leprosy and sarcoidosis may infiltrate the testicle Sickle cell disease – Sickling of cells within the testis leads to microinfarcts Excessive use of alcohol, cigarettes, caffeine, or marijuana Despite a thorough workup [emedicine.medscape.com]

PURPOSE: We investigate the frequency of cystic fibrosis transmembrane conductance regulator gene mutations in Japanese patients with congenital bilateral absence of the vas deferens, and assess treatment outcomes of assisted reproduction interventions [ncbi.nlm.nih.gov]

The treatment options for resultant infertility are tailored toward the retrieval of sperm with methods, such as microsurgical epididymal sperm aspiration (MESA), for assisted reproduction techniques (in-vitro fertilization procedures) Symptomatic treatment [dovemed.com]

Treatment For Congenital Absence Of Vas Deferens Congenital bilateral absence of vas deferens cannot be cured. [tandurust.com]

Treatment of CBAVD Treatment is only necessary for reproduction, which is possible with intracytoplasmic sperm injection. The risk of cystic fibrosis (CF) is increased, genetic diagnosis and counseling can assess the risk individually. [urology-textbook.com]

Treatment There is no surgical procedure to reconstruct the vas deferens. However, men can father children by undergoing sperm retrieval and ICSI and IVF. [fertilityauthority.com]

(Outcome/Resolutions) The prognosis of Congenital Bilateral Absence of Vas Deferens, in a majority of individuals, depends upon the severity of cystic fibrosis. [dovemed.com]

Treatment and prognosis Usually asymptomatic and requiring no treatment. If complications occur or the degree of obstruction is marked then, reimplantation following resection of the aganglionic segment may be performed. [radiopaedia.org]

Prognosis Bilateral renal agenesis is a lethal condition, usually in the neonatal period due to pulmonary hypoplasia. The prognosis with unilateral agenesis is normal. [sonoworld.com]

The prognosis of future fertility should be considered when epididymovasal anomalies are detected at orchiopexy, and the incidence of epididymal and vasal abnormalities in undescended testicles is (19%). 4 Flimsy attachment of the head of epididymis to [dovepress.com]

The data presented in this family, indicating a discordance between the CBAVD phenotype and a marked carrier (delta F508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD. [ncbi.nlm.nih.gov]

Etiology of Vas Deferens Aplasia Mutations of the CFTR: Mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) lead to a bilateral absence of the seminal vesicles and/or vasa deferentes. [urology-textbook.com]

(Etiology) In individuals with cystic fibrosis, Congenital Bilateral Absence of Vas Deferens is caused by mutations in the CFTR gene, which stands for cystic fibrosis transmembrane regulator gene The CFTR regulates chloride ion channels through cell membranes [dovemed.com]

Testicular etiologies (primary testicular failure) involve disorders of spermatogenesis intrinsic to the testes. [auanet.org]

Etiology Obstructive azoospermia congenital bilateral absence of ductus (vas) deferens (CBAVD) obstruction of ductus deferens tubular ectasia of rete testes or epididymis inflammatory lesion of epididymis or ductus deferens. inflammatory obstruction of [radiopaedia.org]

[…] bilateral, it may be associated with absence of the seminal vesicles or with abnormalities of the urinary tract (Tüttelmann et al, 2008): Congenital unilateral absence of the vas deferens (CUAVD) Congenital bilateral absence of the vas deferens (CBAVD) Epidemiology [urology-textbook.com]

An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain. An Esp Pediatr. 1998;49:619-623. Sekine I, et al. [rarediseases.org]

[…] dysgenesis (dysthyroidosis, thyroid dysgenetic disorder) is a collective term for various anomalies in the anatomic development of the thyroid, including thyroid gland proper abnormalities (agenesis, hemiagenesis and hypoplasia) and ectopic thyroid tissue Epidemiology [pathologyoutlines.com]

J Androl 25:23–24 PubMed Google Scholar Dieckmann KP, Pichlmeier U (2004) Clinical epidemiology of testicular germ cell tumors. [link.springer.com]

Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J. Med. Genet., 27, 353-357. Donnai, D., Hughes, H. E., Winter, R. M. (1987). Postaxial acrofacial dysostosis (Miller) syndrome. J. [oandplibrary.org]

Taking the above mentioned pathophysiologic mechanisms and clinical features of the disease into consideration, all patients with a newly diagnosed CUAVD should undergo imaging of the upper urinary tract-primarily by sonography. [omicsonline.org]

Authors’ Affiliations (1) Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo, Zhejiang, 315211, China (2) China National Population and Family Planning Key Laboratory of Contraceptive Drugs and Devices [jclinbioinformatics.biomedcentral.com]

[…] show absence of the left lobe with a left:right ratio of 4:1 ( J Clin Endocrinol Metab 1981;52:247 ) Thyroid hemiagenesis has several variations: absent lobe, absent lobe and isthmus, absent isthmus, absent both lateral lobes with remaining isthmus Pathophysiology [pathologyoutlines.com]

Pathophysiology Levator palpebrae superioris and Mueller muscle Blepharoptosis are the upper eyelid elevator muscles. [eyewiki.aao.org]

Arch Androl 32:37–43 PubMed CrossRef Google Scholar Eliasson R (1968) Biochemical analyses of human semen in the study of the physiology and pathophysiology of the male accessory genital glands. [link.springer.com]

Congenital bilateral absence of the vas deferens (CBAVD) is a genetic abnormality that prevents the development of the vas deferens. The vas deferens is the tube that carries sperm from the testes. CBAVD keeps sperm from exiting the body. [regionalonehealth.org]

Currently, there are no specific methods or guidelines to prevent Congenital Bilateral Absence of Vas Deferens, since it is a genetic condition Genetic testing of the expecting parents (and related family members), as well as prenatal diagnosis (molecular [dovemed.com]

Mutation in this gene prevents formation of vas deference during the developmental stage of fetus, however, the testes is fully developed with its function intact. [tandurust.com]

Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. [ghr.nlm.nih.gov]

Prevention There is no known way to prevent congenital amputations, but the prevention of birth defects in general begins with the well being of the mother before and during pregnancy. [healthofchildren.com]