الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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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.