Approach to Diagnosis in Children with Differences of Sex Development
摘要
The diagnosis of DSD is a deductive process. It begins with a detailed historical review and careful physical examination followed by a preliminary panel of screening investigations (karyotype, ultrasonography, serum biochemistry, serum 17 hydroxy progesterone (OHP)) followed by more specific tests (hormonal studies, imaging—MRI, genitogram) in a reasonable, cost-effective, and stepwise manner. Endoscopic evaluation (genitoscopy/laparoscopy, biopsy) requiring anesthesia is scheduled with planned therapeutic interventions in a calendar that combines diagnosis and management. Various diagnostic algorithms follow these principles to move from a provisional diagnosis along a process of differential diagnosis to a final one as per the Chicago Consensus terminology.