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

Giacinto Marrocco, Emiliano Bruner, Santiago Vallasciani, Silvia Majore, Paola Grammatico

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)477-479
Number of pages3
JournalJournal of Pediatric Urology
Volume3
Issue number6
DOIs
Publication statusPublished - Dec 2007

Keywords

  • Cryptorchidism
  • Hypospadias
  • Phenotype

ASJC Scopus subject areas

  • Urology
  • Pediatrics, Perinatology, and Child Health

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