Otizm Spektrum Bozuklukları Olan Bir Türk Popülasyonda Erkek Genital Anomalileri Bulguları

Yıl 2019, , 72 - 77, 13.06.2019

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

https://doi.org/10.21673/anadoluklin.460738

Cited By: 1

Öz

 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.

Anahtar Kelimeler

erkek genital anomalileri;, ; hipospadias, kriptorşidizm, OSB

Findings of male genital anomalies in a Turkish population with Autism Spectrum Disorders.

Öz

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.

Anahtar Kelimeler

ASD, Male Genital anomalies, Cryptorchidism, hypospadia

Kaynakça

• 1. Association AP. Diagnostic and statistical manual of mental disorders (DSM-5®): American Psychiatric Pub; 2013.
• 2. Monteiro SA, Spinks-Franklin A, Treadwell-Deering D, et al. Prevalence of autism spectrum disorder in children referred for diagnostic autism evaluation. Clinical pediatrics. 2015;54(14):1322-7.
• 3. Rosti RO, Sadek AA, Vaux KK, et al. The genetic landscape of autism spectrum disorders. Developmental Medicine & Child Neurology. 2014;56(1):12-8.
• 4. Vijayakumar NT, Judy M. Autism spectrum disorders: Integration of the genome, transcriptome and the environment. Journal of the neurological sciences. 2016;364:167-76.
• 5. Modabbernia A, Velthorst E, Reichenberg A. Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses. Molecular autism. 2017;8(1):13.
• 6. Ornoy A, Weinstein-Fudim L, Ergaz Z. Genetic syndromes, maternal diseases and antenatal factors associated with autism spectrum disorders (ASD). Frontiers in neuroscience. 2016;10:316.
• 7. Arndt TL, Stodgell CJ, Rodier PM. The teratology of autism. International Journal of Developmental Neuroscience. 2005;23(2-3):189-99.
• 8. Lombardo MV, Auyeung B, Pramparo T, et al. Sex-specific impact of prenatal androgens on intrinsic functional connectivity between social brain default mode subsystems. bioRxiv. 2018:253310.
• 9. Chakrabarti B, Dudbridge F, Kent L, et al. Genes related to sex steroids, neural growth, and social–emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Research. 2009;2(3):157-77.
• 10. Schmidtova E, Kelemenova S, Celec P, et al. Polymorphisms in genes involved in testosterone metabolism in Slovak autistic boys. The Endocrinologist. 2010;20(5):245-9.
• 11. Zettergren A, Jonsson L, Johansson D, et al. Associations between polymorphisms in sex steroid related genes and autistic-like traits. Psychoneuroendocrinology. 2013;38(11):2575-84.
• 12. Miodovnik A, Diplas AI, Chen J, et al. Polymorphisms in the maternal sex steroid pathway are associated with behavior problems in male offspring. Psychiatric genetics. 2012;22(3):115.
• 13. Toppari J, Virtanen HE, Main KM, et al. Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection. Birth Defects Research Part A: Clinical and Molecular Teratology. 2010;88(10):910-9.
• 14. Skakkebaek NE, Rajpert-De Meyts E, Buck Louis GM, et al. Male reproductive disorders and fertility trends: influences of environment and genetic susceptibility. Physiological reviews. 2015;96(1):55-97.
• 15. Timonen‐Soivio L, Vanhala R, Malm H, et al. The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort. Developmental Medicine & Child Neurology. 2015;57(1):75-80.
• 16. Schieve LA, Shapira SK. Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder. American journal of epidemiology. 2018;187(4):664-7.
• 17. Chen J, Sørensen HT, Miao M, et al. Cryptorchidism and increased risk of neurodevelopmental disorders. Journal of psychiatric research. 2018;96:153-61.
• 18. Sijstermans K, Hack W, Meijer R, et al. The frequency of undescended testis from birth to adulthood: a review. International journal of andrology. 2008;31(1):1-11.
• 19. Chan E, Wayne C, Nasr A. Ideal timing of orchiopexy: a systematic review. Pediatric surgery international. 2014;30(1):87-97.
• 20. Springer A, Van Den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. Journal of pediatric urology. 2016;12(3):152. e1-. e7.
• 21. Boisen K, Chellakooty M, Schmidt I, et al. Hypospadias in a cohort of 1072 Danish newborn boys: prevalence and relationship to placental weight, anthropometrical measurements at birth, and reproductive hormone levels at three months of age. The Journal of Clinical Endocrinology & Metabolism. 2005;90(7):4041-6.
• 22. Kohane IS, McMurry A, Weber G, et al. The co-morbidity burden of children and young adults with autism spectrum disorders. PloS one. 2012;7(4):e33224.
• 23. Butwicka A, Lichtenstein P, Landén M, et al. Hypospadias and increased risk for neurodevelopmental disorders. Journal of Child Psychology and Psychiatry. 2015;56(2):155-61.
• 24. Rzhetsky A, Bagley SC, Wang K, et al. Environmental and state-level regulatory factors affect the incidence of autism and intellectual disability. PLoS computational biology. 2014;10(3):e1003518.
• 25. Cortada X, Kousseff BG. Cryptorchidism in mental retardation. The Journal of urology. 1984;131(4):674-6.
• 26. Rundle J, Primrose D, Carachi R. Cryptorchism in cerebral palsy. British journal of urology. 1982;54(2):170-1.
• 27. Depue RH. Cryptorchidism, an epidemiologic study with emphasis on the relationship to central nervous system dysfunction. Teratology. 1988;37(4):301-5.
• 28. Liederman J, Flannery KA, Curley J. Cryptorchidism (undescended testes): a common congenital malformation associated with neurobehavioral abnormalities. Child Neuropsychology. 1997;3(2):134-46.