BACKGROUND AND AIMS: At routine groin surgery in male paediatric patients occasionally the vas deferens may be absent. This finding usually leads to investigations to establish the status of the contralateral vas deferens and the status of the kidneys. It is not uncommon to find either an ipsilateral renal agenesis or congenital bilateral absence of the vas deferens. The latter finding prompts a test for cystic fibrosis. We report three patients who upon investigation were found to have the rare combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, and discuss the possible embryological basis, the clinical management and the long-term implications of these findings. PATIENTS AND METHODS: We present three patients who were incidentally found to have absence of the vas deferens whilst undergoing elective groin surgery and following further tests were diagnosed with congenital bilateral absence of the vas deferens and unilateral renal agenesis. The case notes were reviewed, together with the results of radiological investigations, cystic fibrosis screening and the status of the contralateral vas deferens. RESULTS: All three patients were found to have congenital bilateral absence of the vas deferens, unilateral renal agenesis and were not found to have cystic fibrosis. CONCLUSIONS: The combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, without cystic fibrosis, is rare and not reported previously in the paediatric literature. These findings require appropriate counselling of the parents and child, with regards to the long-term implications of infertility and renal function.
BACKGROUND AND AIMS: At routine groin surgery in male paediatric patients occasionally the vas deferens may be absent. This finding usually leads to investigations to establish the status of the contralateral vas deferens and the status of the kidneys. It is not uncommon to find either an ipsilateral renal agenesis or congenital bilateral absence of the vas deferens. The latter finding prompts a test for cystic fibrosis. We report three patients who upon investigation were found to have the rare combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, and discuss the possible embryological basis, the clinical management and the long-term implications of these findings. PATIENTS AND METHODS: We present three patients who were incidentally found to have absence of the vas deferens whilst undergoing elective groin surgery and following further tests were diagnosed with congenital bilateral absence of the vas deferens and unilateral renal agenesis. The case notes were reviewed, together with the results of radiological investigations, cystic fibrosis screening and the status of the contralateral vas deferens. RESULTS: All three patients were found to have congenital bilateral absence of the vas deferens, unilateral renal agenesis and were not found to have cystic fibrosis. CONCLUSIONS: The combination of congenital bilateral absence of the vas deferens and unilateral renal agenesis, without cystic fibrosis, is rare and not reported previously in the paediatric literature. These findings require appropriate counselling of the parents and child, with regards to the long-term implications of infertility and renal function.
Authors: T Dörk; B Dworniczak; C Aulehla-Scholz; D Wieczorek; I Böhm; A Mayerova; H H Seydewitz; E Nieschlag; D Meschede; J Horst; H J Pander; H Sperling; F Ratjen; E Passarge; J Schmidtke; M Stuhrmann Journal: Hum Genet Date: 1997-09 Impact factor: 4.132
Authors: A Augarten; Y Yahav; B S Kerem; D Halle; J Laufer; A Szeinberg; J Dor; S Mashiach; E Gazit; I Madgar Journal: Lancet Date: 1994-11-26 Impact factor: 79.321