Congenital diaphragmatic hernia is associated with nonscrotal testes

Congenital diaphragmatic hernia (CDH) is a rare birth defect with a high mortality and morbidity. Nonscrotal testes (NST) are the most reported genital anomaly in boys. Both defects have known associated anomalies, but little is known about the association between CDH and NST. This study evaluates this association and the location of the NST in a large cohort of male CDH survivors. Moreover, we analyzed possible associative factors for NST in CDH patients.

A cohort of CDH patients, born between January 2000 and March 2014 and treated in a high volume expertise center, was evaluated retrospectively. Boys with a minimum follow-up of 18months were included. The patients were evaluated for testes location, performed orchidopexy, and possible associative factors such as birth weight, gestational age, other congenital anomalies and CDH characteristics (surgical treatment, approach and ECMO).

Seventy-five CDH patients were included. Twenty-seven (36%) were diagnosed with NST, of which 22 (29%) received orchidopexy. In 54 patients (72%) there were reports on testes location at birth and location was known for all patients at the age of 18months, although side of NST was unknown in four. The location of the NST was mostly ipsilateral to the CDH (n=20, 87%), of which eight (35%) had a bilateral NST with a unilateral CDH. There were no significant differences in birth weight, gestational age, and CDH specific characteristics in patients with or without NST.

This study shows a strong association between CDH and NST, with a prevalence of 36%. However, no specific characteristics of the CDH were related to the NST. The testes of all male CDH patients should be thoroughly evaluated in the first year of their life, to ensure a proper and timely treatment.

Level IV; case series.