The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD.
Advances in laboratory medicine（2021）
摘要
Differential diagnosis of 46,XX or 46,XY DSD requires a multidisciplinary approach, including patient history and clinical, morphological, imaging, biochemical and genetic data. We propose a diagnostic algorithm suitable for a newborn with DSD that focuses mainly on biochemical and genetic data.
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关键词
46,xy dsd,biochemical diagnosis,diagnostic algorithm,differences/disorders of sex development (dsd),genetic diagnosis
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