Disorders of sex development 45,X/46,XY: clinical and laboratory characteristics of patients

Deterioration of sexual development is one of the actual problems, namely, the difficulty of its diagnosis, because there is no universal Protocol that would be recommended for all cases of sexual dysfunction. An important problem is that there is a considerable number of diagnostic methods, but the specificity and effectiveness vary in a wide range. Diagnostic laparoscopy and genetic testing, including chromosomal analysis, comparative genomic hybridization (CGH), FISH to determine SRY, are among the most effective diagnostic methods that can be used to verify pathology that may not be detected by routine methods. Timely diagnosis is extremely important due to the fact that the sooner the violation is verified, the sooner the correct gender is delivered to the patient and the appropriate correction is made for him. It must be remembered that patients with impaired sex formation have the risk of malignancy of the gonads. This article presents a clinical case of diagnosis and management of a patient with impaired sexual development at the age of 1 year and 6 months, showing how important a comprehensive diagnostic examination is, as well as diagnostic methods for making a correct diagnosis.

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Difficulties in Diagnosing Disorders of Sexual Development

Adamyan

Sibirskaya

Sharkov

et al. 2019

Russian Journal of Pediatric Surgery

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Gender problems in newborns: social, medical and legal aspects

Комкова

Basova

2019

Ross. vestn. perinatol. pediatr.

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Objective of the study. To analyze the modern literature on the legal regulation of the determination of the sex of newborns with disturbances of sexual development in Russia and abroad, as well as the right of these children for self-determination of their sex upon coming of age. Material and methods. The review is based on the domestic and foreign literature published overthe past 7 years, including in Pubmed. Results. There were revealed the modern problems of the legal regulation of determining the sex of newborns with developmental disorders in the territory of the Russian Federation. Conclusion. The right to the sex self-determination of the children born with impaired sexual development upon coming of age requires careful analysis by medical experts, as from a legal point of view it contributes to a more complete implementation of the constitutional principle of equality regardless of gender and ensures human rights in accordance with their perception and attitude.

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Disorders of sex development 45,X/46,XY: clinical and laboratory characteristics of patients

Cited by 2 publications

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Difficulties in Diagnosing Disorders of Sexual Development

Difficulties in Diagnosing Disorders of Sexual Development

Gender problems in newborns: social, medical and legal aspects

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