Do patients with hypospadias and cryptorchidism share a common phenotype? Case–control study of an Italian paediatric population

Abstract 

Objective

A large number of children affected by hypospadias and undescended testis (UDT) are characterized facially by a large forehead with frontal bossing, telecanthus and broad flat nasal bridge. These traits are classically part of the clinical spectrum of the Opitz-GBBB and other syndromes. The aim of this study was to test the hypothesis that the presence of these features in isolated hypospadias and UDT is not correlated with chromosomal anomalies and/or syndromes, but defines a distinct morphology.

Patients and methods

Two hundred patients affected by isolated hypospadias and 100 presenting with a UDT were evaluated for facial biometric indices. An age-matched group of patients was used as control. The parameters inter-pupillary/inner canthal ratio and glabella–nose tip/nasion distance were then calculated.

Results

The glabella–nose tip/nasion distance was significantly different between hypospadias and control groups, but was not different between UDT and control groups. There was no difference in inter-pupillary/inner canthal ratio.

Conclusion

Children affected by hypospadias and/or UDT frequently present peculiar phenotypic features making it possible to recognize them ‘at first glance’. This association needs to be explained in future studies.

Keywords: Hypospadias, Cryptorchidism, Phenotype