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Objective: To study MAMLD1 gene polymorphisms, serum LH and testosterone levels amongst Indian children with isolated hypospadias (IH) and controls.Materials and Methods: Screening of the MAMLD1 gene was performed by PCR sequencing method in 100 Indian children aged 0-12 years presenting with IH and 100 controls. LH and testosterone hormone levels were also assessed (categorized in four age-wise groups).Results: IH subjects had significantly higher incidence of MAMLD1 polymorphism as compared to controls (33 vs 15 %, p = 0.01). Of various genomic variants identified in this study, the noteworthy novel ones were missense mutation P299A and single nucleotide polymorphism c.2960C>T in 3' UTR of Exon 7. While p 299A was found to cause protein structural instability consequent to amino acid change, eighty percent subjects with c.2960C>T in 3' UTR of Exon 7 (corresponding to newly discovered currently non-validated exon 11) were found to have lower testosterone levels when compared with their age group mean. IH showed statistically higher incidence of c.2960C>T in comparison to controls (22 vs 10 %, p value 0.046) and about 2.5-folds higher risk of this anomaly.Conclusion: Occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3' UTR of its exon 7 is associated with a higher risk of IH in Indian children, probably by lowering androgenic levels. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the outcomes of three surgical techniques for the closure of urethrocutaneous fistula (UCF) after hypospadias repair.Materials and Methods: Fifty-one patients (mean age 6.5 years) who underwent UCF closure between June 1998 and February 2008 were divided in to three groups depending on fistula size; group I had <2 mm and (n = 17, 33.4%), group II had 2-4 mm (n = 21, 41.2%) and group III had >4 mm or multiple fistulas (n = 13, 25.4%). Group I patients were treated by excision and simple closure. Patients in group II and III were treated with flip flap technique along with the wrapping of repaired area with scrotal dartos flap and tunneled tunica vaginalis flap (TVF), respectively.Results: Mean surgical time was 45 min (range 30-55), 60 min (range 50-75) and 80 min (range 60-100) in three techniques, respectively. The mean follow-up was 3.5 years (range 6 months-10 years). No patient had recurrence of fistula in group III, while 2 (9.5%) and 4 (25.4%) patients in groups II and I, respectively, had recurrent UCF. No postoperative complications were encountered in the testis or the scrotum. No patient had torsion or deviation of penis.Conclusion: Simple fistula closure carries a higher risk of recurrence even in small sized fistulas. The application of scrotal dartos or TVF for wrapping the repaired area gives excellent results and they are easy to harvest with no harmful effects on the scrotum or testis. [ABSTRACT FROM AUTHOR]