Evaluation of the relationship between urogenital abnormalities and neuromuscular disorders

Because of its striated muscle origin; the cremaster muscle may possibly be affected by neuromuscular diseases and may cause the increased incidence of undescended testes and other urogenital malformations. Therefore we aim at determining the frequency of inguinopenoscrotal abnormalities in children with muscle disease.This study was conducted at the Izmir Dr.Behcet Uz Children’s Hospital from May 2004 through April 2009. Twenty eight normal muscle and 105 boys holding diagnoses of neuromuscular disorders which were confirmed by muscle biopsy were included in this study. Detailed clinical information, physical and laboratory examination findings were obtained from patient files. All findings were evaluated statistically. The mean age of all boys was 6.42 (± 3.89), years. Dystrophies were diagnosed in 79 (75.2%) patients. Other disorders were 5 primary, 7 inflammatory and 7 metabolic/mitochondrial myopathies and 7 neuropathies. Twenty seven (25.7%) patients had similarly affected family members. Consanguinity rate was 24.7%. Alterations in serum enzymes, EMG pathologies and fiber type disproportions were determined in 88 (83.8), 82 (78%) and 28 (26.6%) of the patients respectively. Urogenital malformations were detected in 11 (8.27%) boys. Although both in Spearman’s Correlation Analysis and in Fisher exact Chi-Square test, there were no statistical significances between the types of neuromuscular disease and urogenital malformations (p=0.344 and p=0.457), the odds ratio for urogenital pathologies was found 2.83. This result supported that urogenital abnormalities were more common in children with neuromuscular disorders than control cases.Congenital muscle disease may create a disturbance during development of inguinal region possibly with influence of cremaster muscle or other inguinal tissues. Therefore children with muscle diseases must be more carefully physically examined for the presence of urogenital pathologies and paradoxically children with urogenital pathologies must be neurologically examined for the presence of any neuromuscular disorders.