Showing papers by "Pankaj P. Dangle published in 2017"

Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region

Abstract: Background The XX male disorder of sex development (DSD) is a rare condition that is most commonly associated with the presence of the SRY gene on one of the X chromosomes due to unequal crossing-over between sex chromosomes during spermatogenesis. However, in about 20% of the XX male individuals, SRY is missing, although these persons have at least some testis differentiation. The genetic basis of genital ambiguity and the mechanisms triggering testis development in such patients remain unknown. Methods The proband with 46,XX SRY-negative testicular DSD was screened for point mutations by whole exome sequencing and CNVs using a high-resolution DSD gene-targeted and whole genome array comparative genomic hybridisation. The identified Xp21.2 genomic alteration was further characterised by direct sequencing of the breakpoint junctions and bioinformatics analysis. Results A unique, 80 kb microdeletion removing the regulatory sequences and the NR0B1 gene was detected by microarray analysis. This deletion disturbs the human-specific genomic architecture of the Xp21.2 dosage-sensitive sex (DSS) reversal region in the XX patient with male-appearing ambiguous genitalia and ovotestis. Conclusions Duplication of the DSS region containing the MAGEB and NR0B1 genes has been implicated in testis repression and sex reversal. Identification of this microdeletion highlights the importance of genomic integrity in the regulation and interaction of sex determining genes during gonadal development.

Optimal Length of Follow-up for the Detection of Unsuccessful Pediatric Pyeloplasty: A Single-Center Experience

Abstract: Objectives To assess the optimal length of follow-up for patients undergoing both open and minimally invasive pyeloplasties to ensure prompt detection of a recurrent obstruction There are no standard guidelines on ideal follow-up and imaging post-pediatric pyeloplasty currently Methods A retrospective chart review identified 264 patients (<18 years old) who underwent pyeloplasty for ureteropelvic junction obstruction between April 2002 and December 2014 Ultrasound was obtained every 3-4 months for the first year following pyeloplasty and thereafter at discretion of treating physician Patient characteristics including symptoms and imaging were reviewed Results Of the 264 patients, 72% were male with mean age of 51 months and follow-up of 268 months Approximately 73% followed-up to three years Fourteen patients (53%) had a recurrent obstruction Among the failures, 85% were diagnosed and underwent successful redo-pyeloplasty within three years The six infants with recurrence (43% of all unsuccessful surgeries) were diagnosed within three years of the initial surgery Patients undergoing a minimally invasive procedure were less likely to be followed for more than three years compared to an open procedure (p<0001) Patients with severe hydronephrosis preoperatively were followed longer (p=0031) Age at surgery and type of surgical approach (p<001) were significant predictors of length of follow-up in a negative binomial regression Conclusions Based on the results, a minimum of three years of follow-up is necessary to detect the majority of recurrent obstructions Amongst those who require a secondary pyeloplasty, younger patients with severe hydronephrosis are at an increased risk of recurrence

Case: Pediatric paratesticular soft tissue perineurinoma - A rare entity.

Abstract: Soft tissue perineuriomas are rare but benign tumours that are composed of peripheral nerve sheath and are most commonly located in the extremity. Diagnosis is confirmed by the immunohistochemical and ultrastructural features of the tumour. Paratesticular location is extremely rare; so far, only one case is reported. Herein, we report a second case of perineurioma in a 16-year-old male in the paratesticular region.