Four Cousins with Hypospadias, Is It Familial or Environmental? (Case Report)

Abstract

Hypospadias is one of the most common birth defects. However, its etiology remains largely unknown. Genetic and also intrauterine environmental factors have a principal role in causing familial hypospadias. Hypospadias repair is done through several techniques, one of which is Snodgrass technique which has many advantages. The 4 cousins underwent repair with no complications during 6 months follow up period. Methods: Urethroplasty using Snodgrass hypospadias repair of 4 cousins with positive parental consanguinity and absent family history of hypospadias. Results: 4 cousins underwent Snodgrass (Tubularized incised plate urethroplasty) with no complications after 6 months follow up. Conclusion: Although there is high heritability of hypospadias that also aggregates within second-and third-degree relatives, environmental factors may play a principal role in causing familial hypospadias. Hypospadias repair has a long learning curve. The continuous auditing should be done to improve the results.

Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case‐control study

“…Although we did not find a relationship between hypospadias and consanguinity ( p = .185), the marriage between close relatives has been associated with an increased risk of familial hypospadias. Several studies have reported cases of hypospadias in consanguineous families, suggesting a potential genetic influence on the condition (Frydman et al, 1985; Mohamed et al, 2019).…”