Clinical сase of disorder of sex development with karyotype 47XYY

M. R. Shaydullina, N. R. Akramov, F. Valeeva, Z. R. Alimetova, E. V. Kolbasina
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Abstract

Disorder of sex development (DSD) is a term used to refer to congenital disorders that led to atypical structure of the genitals. The cause of DSD is a disorder of the embryonic development of the reproductive system due to chromosomal, genetic pathology or other adverse effects on pregnancy. DSD entails difficulties with social adaptation of the family, leads to severe psychological disorders in the child and his relatives. Sex of a child with DSD should be established only after a full examination and consultation of specialists in this field. A clinical case is presented to illustrate the complexity of differential diagnosis and choice of passport sex in a child with one of the rare forms of DSD.
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核型47XYY性发育障碍临床病例分析
性发育障碍(DSD)是一个术语,用于指先天性疾病,导致非典型结构的生殖器。DSD的病因是由于染色体、遗传病理或其他对妊娠的不利影响而导致的生殖系统胚胎发育障碍。残疾儿童在家庭社会适应方面有困难,导致儿童及其亲属出现严重的心理障碍。只有在对该领域的专家进行全面检查和咨询后,才能确定患有DSD儿童的性别。一个临床病例提出,以说明鉴别诊断的复杂性和护照性别的选择在一个罕见的形式的DSD的孩子。
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