Disorders of sex development.
Disorders of sex development.
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DOI：
10.1016/j.bpobgyn.2017.11.005
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发表时间：
2018-04
期刊：
影响因子：
--
通讯作者：
Witchel SF
中科院分区：
文献类型：
--
作者：
Witchel SF
Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of molecular events leading to male sex development. Disorders of sex development comprise a heterogenous group of congenital conditions associated with atypical development of internal and external genitalia. These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with DSD. Most importantly, patient management needs to be individualized especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.
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