Abstract

ABSTRACTIntroduction:Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies.Materials and Methods:A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly.Results:Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns.Discussion:Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly.Conclusion:Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach.

Highlights

  • Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra

  • When analyzing and comparing the severity of hypospadias and its relation to other anomalies, we found that proximal ones were significantly associated to other anomalies

  • No differences were identified when comparing non-associated to co-occurring craniofacial – hypospadias cases with regards to mother’s age, gestational age, weight at birth

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Summary

Introduction

Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Results: Global prevalence was 11.3 per 10.000 newborns In this population a total of 809 patients with 1117 associated anomalies were identified. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. In Colombia it affects around 1.7/1000 male live births [2] It is a congenital abnormality of the penis in which there is an incomplete development of the anterior urethra, resulting in the abnormal urethral opening on the ventral surface of the penis [3]. In most cases the cause is unknown; endocrine, environmental and genetic factors have been found to be involved in the etiology of hypospadias [3]

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