Hesna Gül, Yetiş Işıldar, Sahin Bodur, Miray Çetinkaya, Candan Taşkıran

Otizm Spektrum Bozuklukları Olan Bir Türk Popülasyonda Erkek Genital Anomalileri Bulguları

Amaç: Otizm spektrum bozukluğu (OSB) heterojen bir nörogelişimsel bozukluktur. Etiyolojisinde genetik ve erken dönemde maruz kalınan çevresel faktörler önemli bir rol oynar. Bu faktörler, ayrıca OSB’li çocuklarda konjenital anomalilerin prevalansını da etkiler. Bu çalışmada Türk toplumunda OSB’li erkek hastalarda genital anomali prevalansını saptamak amaçlanmıştır. Gereç ve Yöntemler: OSB’li 11–316 aylık 524 çocuğun verileri geriye dönük olarak incelendi. OSB tanısı, genel olarak ölçüm araçları ile değil, klinik muayeneler ile konmuştu. Bulgular: Hastaların 432’si (%82,4) erkek, 92’si (%17,6) kızdı. 432 (%4,4) erkek hastanın 19’u herhangi bir genital anomaliye sahipti. Bu 19 hastanın 10’una (%52) kriptorşidizm (çalışmamızda görülen en yaygın genital anomali) tanısı konduğu saptandı. Tartışma ve Sonuç: Bazı limitasyonları olmakla birlikte, bu çalışma Türk toplumunda OSB’li erkek çocuklarda genital anomali komorbiditesini araştıran büyük örneklemli az sayıdaki çalışmadan biridir ve incelenen grupta erkek genital anomali insidansının yüksek olduğunu göstermiştir.

Findings of Male Genital Anomalies in a Turkish Population with Autism Spectrum Disorders

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 earlyenvironmental factors. These factors also affect the prevalence of congenital anomalies inchildren with ASD. This study aimed to determine the prevalence of genital anomalies inmale patients with ASD in the Turkish population.Materials and Methods: Data of 524 children with ASD aged between 11 and 316 monthswere examined retrospectively. The diagnosis was mostly established by clinical expressionand 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) werefemale. Only 19 of the 432 (4.4%) boys were diagnosed with a genital anomaly. Ten of the19 patients (52%) was diagnosed with cryptorchidism, which was the most common genitalanomaly in our study.Discussion and Conclusion: Despite having some limitations, this study is one of the fewstudies with a large population that investigate the comorbidity of genital anomalies in boyswith ASD in the Turkish population, and showed that male genital anomalies had a highincidence in the sample included.

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