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Abstract Inguinopenoscrotal anomalies in male children may be congenital or acquired and can occur as isolated anomalies or multiply associated. Over recent decades, their prevalence especially hypospadias and cryptorchidism has increased. Cryptorchidism which results from failure of testicular descent into the scrotum is a very common anomaly affecting about 1/20 males at birth. Hypospadias, which is an ectopic ventral opening of the urethra, affects approximately 1:200 male birth. Many studies illustrated that many transcription factors and signaling molecules control the development of the genital tubercle, including Wilms tumor 1 gene (WT1). Mutations of WT1 have been found in some cases associated with Wilms’ tumor or nephrotic syndrome. In addition, studies showed that some mutations in WT1 especially exon 6 and 7 are associated with mild effects on sexual differentiation, including hypospadias and cryptorchidism. We conducted a purposive sample study of 160 male children in our pediatric genetic & endocrinology clinic, at Menoufia University Hospital during period from June 2018 to June 2019. Eighty male children with malformed external genitalia ranged from one month to 12 years in age with average of 3.05 ± 2.99 years compared to 80 apparently healthy children of same age groups with normal external genitalia as control group, with mean age (4.02 ± 3.34) years. All patients were subjected to the following after taking informed consent and agreement of our local ethical committee: Detailed history and general physical examination. Local genital assessment included anterior urethral meatus position determination, stretched penile length measurement, gonadal assessment, detection of any anomaly and calculation of EMS. Routine blood investigations and ultrasonography when needed. Karyotyping and male hormonal evaluation for patients with EMS less than 11. Molecular studies for WT1 gene included; DNA extraction, PCR and band detection by gel electrophoresis for all patients and control. PCR products purification, sequencing for WT1 exon 7 and associated data analysis only for patients. |