Abstract
Aims: Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental conditions, and genetics has a key role in the etiology, in connection with developmentally early environmental factors. These factors also affect the prevalence of congenital anomalies in children with ASD. This study aimed to determine the prevalence of genital anomalies in male patients with ASD in the Turkish population. Materials and Methods: Data of 524 children with ASD aged between 11 and 316 months were examined retrospectively. The diagnosis was mostly established by clinical expression and examination, rather than assessment using the formal tools. Results: Four hundred and thirty-two (82.4%) of the children were male and 92 (%17.6) were female. Only 19 of the 432 (4.4%) boys were diagnosed with a genital anomaly. Ten of the 19 patients (52%) was diagnosed with cryptorchidism, which was the most common genital anomaly in our study. Discussion and Conclusion: Despite having some limitations, this study is one of the few studies with a large population that investigate the comorbidity of genital anomalies in boys with ASD in the Turkish population, and showed that male genital anomalies had a high incidence in the sample included.
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