The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
July 2021
in “
Advances in laboratory medicine
”
testosterone dihydrotestosterone estradiol LH FSH AMH inhibin B INSL3 cortisol aldosterone ACTH LHRH HCG gene dosage variations high-throughput DNA sequencing 46,XY DSD intrauterine virilization DHT estrogen luteinizing hormone follicle-stimulating hormone anti-Müllerian hormone insulin-like 3 adrenocorticotropic hormone gonadotropin-releasing hormone human chorionic gonadotropin DNA sequencing
Studysummary This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
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