The association between congenital diaphragmatic hernia and undescended testes.

Background: Undescended testes (UDT) is a common abnormality treated by pediatric surgeons. Embryological development of the genitourinary ridge is in close proximity with the pleuroperitoneal fold. The purpose of this paper is to describe the association between congenital diaphragmatic hernia (CDH) and UDT.

Materials/methods: As part of the DHREAMS (Diaphragmatic Hernia Research and Exploration: Advancing Molecular Science) study (www.cdhgenetics.com), all living children had tissue banked and analyzed for common genetic mutations and had a health assessment performed by telephone consultation with the parents at two years of age. The incidence of UDT was then compared to clinical and genetic findings previously identified.

Results: Sixty-five males had complete information from their 2year health assessment. Of these, twelve (18%) had a UDT repaired by the time of the 2year assessment. Of the twelve who had a repair, no child had a unilateral UDT which was contralateral to the side of the CDH. There were no differences in rate or number of mutations of any of the genes we checked as part of our study.

Conclusion: It appears that a deficiency of diaphragm tissue may affect the first or transabdominal phase of the testicular descent, leading to an increased incidence of UDT.