Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care
BACKGROUND: The frequency of cryptorchidism varies and depends on gestational age, affecting 1.04... more BACKGROUND: The frequency of cryptorchidism varies and depends on gestational age, affecting 1.04.6% of full-term and 1.145% of preterm newborns. Treatment of this defect is currently surgical. Orchiopexy is one of the frequent surgical aids in the practice of a pediatric surgeon and a pediatric urologist. The need for bilateral inguinal cryptorchidism to perform several incisions or separate operations on each side by time forces pediatric surgeons to continue searching for the optimal way to correct bilateral cryptorchidism. AIM: To determine the possibilities of fixation of both testicles with bilateral cryptorchidism in a physiological position in the scrotum through a single surgical approach with fewer complications and improved cosmetic result in comparison with the previously proposed methods. MATERIALS AND METHODS: From 2012 to 2021, we treated 92 male children with bilateral inguinal cryptorchidism. All boys underwent the developed method of single-stage transcrotal bilate...
Abstract Rationale: Pediatric patients with WTl-associated syndromes (including Wilms’ tumor-anir... more Abstract Rationale: Pediatric patients with WTl-associated syndromes (including Wilms’ tumor-aniridia syndrome and Denys-Drash syndrome), Perlman syndrome, mosaic aneuploidy, and Fanconi anemia with a biallelic breast cancer type 2 susceptibility protein mutation have the highest risk of developing Wilms’ tumor. Patient concerns and diagnosis: We describe a patient with bilateral metachronous Wilms’ tumor, ambiguous genitalia characterized by 46, XY disorder of sexual development (DSD) with scrotal hypospadias and bilateral abdominal cryptorchidism, but without nephropathy. At the age of 7 months, the child underwent left nephrectomy with left orchiopexy. At follow-up after 8 months, a second tumor with a diameter of 10 mm was detected in abdominal CT scans at the lower pole of the right kidney. Intervention: Intra-operative macroscopic inspection of the right kidney revealed a tight attachment of the right proximal ureter to the tumor. Thus, retroperitoneoscopic resection of the lower pole of the right kidney had to be changed to an open surgical procedure with partial resection of the proximal ureter and high uretero-ureterostomy. We subsequently performed orchiopexy and two-stage correction of hypospadias using a free skin graft. Outcomes: At the last follow-up at the age of 8 years, no pathology requiring treatment was noted. A pair-end-reading (2 × 125) DNA analysis with an average coverage of at least 70 to 100 × revealed a previously unknown heterozygous mutation in exon 7 of the Wilms’ tumor suppressor gene 1 (WT1) gene (chr11:32417947G>A), leading to the appearance of a site of premature translation termination in codon 369 (p.Arg369Ter, NM_024426.4). This mutation had not been registered previously in the control samples “1000 genomes,” Exome Sequencing Project 6500, and the Exome Aggregation Consortium. Thus, to the best of our knowledge this represents a newly identified mutation causing incomplete Denys-Drash syndrome.
Difficulties in the treatment of hypospadias in boys persist to this day. After surgical correcti... more Difficulties in the treatment of hypospadias in boys persist to this day. After surgical correction of hypospadias, fistulas, strictures, urethral diverticula, retraction of the meatus, glans dehiscence and other complications occur. At the same time, it is quite difficult to understand the whole variety of proposed methods for correcting hypospadias, which creates confusion for specialists and negatively affects the results of treatment. The literature describes more than 300 different methods of correcting hypospadias, but none of the methods is perfect, and there are no generally accepted treatment standards. Despite this, it is an established fact that the choice of the surgery procedure depends on the type of hypospadias. A successful technique of hypospadias repair should be completed with a good cosmetic and functional result. The article presents an overview of the distension techniques of urethroplasty. For the first time, the experience of urethral advancement was presente...
Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care
BACKGROUND: The frequency of cryptorchidism varies and depends on gestational age, affecting 1.04... more BACKGROUND: The frequency of cryptorchidism varies and depends on gestational age, affecting 1.04.6% of full-term and 1.145% of preterm newborns. Treatment of this defect is currently surgical. Orchiopexy is one of the frequent surgical aids in the practice of a pediatric surgeon and a pediatric urologist. The need for bilateral inguinal cryptorchidism to perform several incisions or separate operations on each side by time forces pediatric surgeons to continue searching for the optimal way to correct bilateral cryptorchidism. AIM: To determine the possibilities of fixation of both testicles with bilateral cryptorchidism in a physiological position in the scrotum through a single surgical approach with fewer complications and improved cosmetic result in comparison with the previously proposed methods. MATERIALS AND METHODS: From 2012 to 2021, we treated 92 male children with bilateral inguinal cryptorchidism. All boys underwent the developed method of single-stage transcrotal bilate...
Abstract Rationale: Pediatric patients with WTl-associated syndromes (including Wilms’ tumor-anir... more Abstract Rationale: Pediatric patients with WTl-associated syndromes (including Wilms’ tumor-aniridia syndrome and Denys-Drash syndrome), Perlman syndrome, mosaic aneuploidy, and Fanconi anemia with a biallelic breast cancer type 2 susceptibility protein mutation have the highest risk of developing Wilms’ tumor. Patient concerns and diagnosis: We describe a patient with bilateral metachronous Wilms’ tumor, ambiguous genitalia characterized by 46, XY disorder of sexual development (DSD) with scrotal hypospadias and bilateral abdominal cryptorchidism, but without nephropathy. At the age of 7 months, the child underwent left nephrectomy with left orchiopexy. At follow-up after 8 months, a second tumor with a diameter of 10 mm was detected in abdominal CT scans at the lower pole of the right kidney. Intervention: Intra-operative macroscopic inspection of the right kidney revealed a tight attachment of the right proximal ureter to the tumor. Thus, retroperitoneoscopic resection of the lower pole of the right kidney had to be changed to an open surgical procedure with partial resection of the proximal ureter and high uretero-ureterostomy. We subsequently performed orchiopexy and two-stage correction of hypospadias using a free skin graft. Outcomes: At the last follow-up at the age of 8 years, no pathology requiring treatment was noted. A pair-end-reading (2 × 125) DNA analysis with an average coverage of at least 70 to 100 × revealed a previously unknown heterozygous mutation in exon 7 of the Wilms’ tumor suppressor gene 1 (WT1) gene (chr11:32417947G>A), leading to the appearance of a site of premature translation termination in codon 369 (p.Arg369Ter, NM_024426.4). This mutation had not been registered previously in the control samples “1000 genomes,” Exome Sequencing Project 6500, and the Exome Aggregation Consortium. Thus, to the best of our knowledge this represents a newly identified mutation causing incomplete Denys-Drash syndrome.
Difficulties in the treatment of hypospadias in boys persist to this day. After surgical correcti... more Difficulties in the treatment of hypospadias in boys persist to this day. After surgical correction of hypospadias, fistulas, strictures, urethral diverticula, retraction of the meatus, glans dehiscence and other complications occur. At the same time, it is quite difficult to understand the whole variety of proposed methods for correcting hypospadias, which creates confusion for specialists and negatively affects the results of treatment. The literature describes more than 300 different methods of correcting hypospadias, but none of the methods is perfect, and there are no generally accepted treatment standards. Despite this, it is an established fact that the choice of the surgery procedure depends on the type of hypospadias. A successful technique of hypospadias repair should be completed with a good cosmetic and functional result. The article presents an overview of the distension techniques of urethroplasty. For the first time, the experience of urethral advancement was presente...
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Papers by Nail Akramov