Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement.
Journal of pediatric endocrinology & metabolism : JPEM（2023）
摘要
The members of the committee believe that patients with 46, XY DSD need to be approached systematically. The proposed diagnostic algorithm, provided in the consensus statement, is cost effective and when supplemented with appropriate genetic studies, may help to reach an aetiological diagnosis in majority of such cases.
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关键词
17β-hydroxysteroid dehydrogenase 3 deficiency,3β-hydroxysteroid dehydrogenase 2 deficiency,46, XY DSD,5ɑ-reductase 2 deficiency,ambiguous genitalia,androgen insensitivity syndrome
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