Objective:We report a male patient with ovotesticular disorder of sex development (OTDSD), resulting from structurally abnormal Y chromosome. Case report: A 3-year-old boy was admitted to the Surgical Pediatric Department for masculinizing reconstruction. He had a clitorophallus, bifi d scrotum, perineal hypospadias and bilateral impalpable gonads. Pelvic ultrasound and laparoscopy showed a uterus and two gonads with primary ovarian follicles. Chromosome analysis detected a mos 47,XX,mar/46,XX karyotype. Complex genetic evaluation revealed that the marker was Yp isochromosome. Surgical care included a feminizing genitoplasty and separation of the gonads with total excision of testicular tissue. Conclusions: The presented case emphasizes the importance of a systematic approach to the investigation and management of the patients with ovotesticular DSD. It also raises the important issue about gender reassignment in intersex individuals in mid-childhood.
The review discusses the issue of reflux nephropathy for specialists of the system of higher medical education: the article provides the definition, characterizes the epidemiology, risk factors for disease development in children with vesicoureteral reflux, causes and molecular mechanisms of renal fibrosis formation and progression in reflux nephropathy, markers for diagnosing and predicting the disease course.
The lecture discusses the issue of reflux nephropathy for specialists of the system of higher medical education: the article provides the definition, characterizes the epidemiology, risk factors for disease development in children with vesicoureteral reflux, causes and molecular mechanisms of renal fibrosis formation and progression in reflux nephropathy, and markers for diagnosing and predicting the disease course. In order to control the retention of the lecture material, the text includes case problems and multiple-choice tests.
The objective of the present study was differential diagnostics between ovotestis and gonadal dysgenesis, the choice of the gender and the surgical strategy for the treatment of abnormal sexual glands. Diagnostics of the disturbances of gonadal differentiation (DGD) requires morphological verification. The ovotesticular gonad is characterized by the presence of a mature ovarian tissue and a dysgenetic testicular component. The authors describe the surgical separation of the ovotestis with preservation of the segments represented by the mature ovarian tissue. The presence of immature ovarian elements in the testicular gonad is one of the signs of its dysgenesis. Such cases need to be treated by the surgical removal of dysgenetic gonads.
This paper describes diagnosis and surgical treatment of a 3.5 year-old child who presented with abnormal sex differentiation resulting in the development of gonads into ovotestes. This disorder was provoked by a rare variant of mosaicism involving sex chromosome and characterized by the presence of an irregular marker chromosome. Additional genetic analysis allowed its origin to be determined: it was identified as Yp chromosome. Comprehensive examination yielded criteria for the choice of sexual identity and provided a basis for the surgical treatment in conformity with the gender being sought.
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