Detection and incidence of anomalies associated with hypospadias

Abstract

Hypospadias has been associated with synchronous congenital anomalies, especially in the urogenital system, and routine screening of patients with hypospadias has been advocated. In recent years, ultrasound (US) has replaced intravenous pyelography (IVP) as the primary screening test for urological deformities, yet there has never been a study of the relative diagnostic efficacy of the two tests in these patients. In this study, we assessed the incidence of urogenital and extraurogenital congenital anomalies in our hypospadias patients that were noted during physical examination and/or laboratory and imaging screening, and evaluated the efficacy of our changing routine screening protocols. We conducted a retrospective analysis of the charts of all hypospadias patients seen at Assaf Harofeh Medical Center. One hundred and sixty-three hypospadias patients fulfilled the documentation criteria we set for this study. We found a high incidence of urogenital and extraurogenital anomalies associated with hypospadias and noted a previously unreported increased incidence of various forms of facial dysmorphism. Additionally, we noted that the accepted concept that US or IVP alone were satisfactory screening tools for asymptomatic low-grade hypospadias patients is probably incorrect. Based on our findings, we recommend that initial screening of all asymptomatic hypospadias patients include US, cystogram, urinalysis, and urine culture.

Hypospadias in Istanbul: Incidence and risk factors

“…Friedman et al . reported that, in instances where they found multiple cases of hypospadias in close relatives or in the family, they usually found parent consanguinity 43 . Although consanguinity rate was found to be 39.3% in the present hypospadiac boys, we did not find a significant relationship between having consanguineous parents and multiple cases of hypospadias in the family.…”

Uroradiological screening for upper and lower urinary tract anomalies in patients with hypospadias: a systematic literature review

“…Seven studies (1132 patients) reported exclusively children6 7 9–11 17 28. In all other studies, the published data did not allow us to calculate the percentage of adults versus children 8 12–16 18–27 29…”

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

“…In our population we identified 4 cases (1.7%) of patients diagnosed with hypertelorism whom also had hypospadias. Other authors have identified a prevalence of 15.3% of associated cases of hypospadias-hypertelorism (5). Of those, two were proximal.…”

“…These abnormalities can be divided into genital, urinary tract and extra urinary; the latter including craniofacial and cardiothoracic alterations (5). Although most of the current data describe associations with urinary tract abnormalities, a study by Friedman et al in 2008 showed an increased incidence of facial dysmorphic such as cleft palate, microphthalmos and high arched palate that had not been seen before.…”