Article
Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development
28 Apr 2025
Abstract excerpt
PURPOSE: 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD. METHODS: The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded....
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