Chromosome 16 Mutations and Congenital Genitourinary Malformations
Journal Title: World Journal of Gynecology & Womens Health (WJGWH) - Year 2018, Vol 1, Issue 3
Abstract
Posterior urethral valve (PUV) disorder is an obstructive anomaly of the genitourinary tract. Found only in males, this condition is caused by an obstructing membrane in the posterior valve of the urethra. During the early stages of embryogenesis, the most caudal end of the wolffian duct is absorbed into the primitive cloaca, forming the posterior urethral folds [1]. In fetuses with PUV, the development of these structures is arrested resulting in fusion of these primitive folds, leading to an obstruction of the outflow of urine. This pathologic finding presents on a spectrum of varying degrees, wherein the obstruction may cause only mild symptoms and present as late as early infancy or cause severe and irreversible damage during early fetal development. In this case, we investigate the possible association between chromosome 16 and the development of the renal system, and the potential for congenital malformation in the setting of genetic alteration.
Authors and Affiliations
Morgan Barlow
Keywords
Related Articles
- EP ID EP609274
- DOI 10.33552/WJGWH.2018.01.000511
- Views 131
- Downloads 0
Maternal and Perinatal Outcomes Among Women Underwent Second-Stage Versus First-Stage Caesarean Delivery at Ibrahim Malik Hospital in Sudan
Background: Second-stage caesarean is more technically difficult due to deep engagement of the fetal head, and this is associated with increased risk of maternal morbidity such as (surgical injuries and intra-operative h...
Therapeutic Role of Dance in the Treatment of Endometriosis-Related Chronic Pelvic Pain: A Proof-of-Concept Study
Background: Endometriosis causes chronic pelvic pain in many of the women affected, which may not remit after surgery or pharmacological treatment. Physical exercise as complementary therapy has already shown to be benef...
Ovarian Granulosa Cell Tumors: A Retrospective Study of 21 Cases and a Review of the Literature
Background: Granulosa cell tumors are rare tumors with a relatively favorable prognosis. The aim of this study was to report the epidemiologic, anatomo-clinical characteristics and to determine treatment modalities and s...
Individualized Hormone Replacement Therapy Versus Ovarian Transplantation
Numerous studies conclude that risks and benefits of hormonal replacement therapy (HRT) are dose-dependent [1]. The pharmaceutical industry attempted to partially resolve the issue of individualization of...
Management Strategy Change of Endometrial Hyperplasia
Endometrial hyperplasia refers to irregular proliferation of endometrial glands, combined with an increased proportion of gland and mesenchyme. This kind of disease generally results from reprodu...