ESPE Abstracts

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n&...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY.Subjects and methods: It was included 248 patients with genital ambiguity, which were divided into groups based on cytogenetic survey. All children with mosaicism 45,X/46,XY evaluated the structure of the external genitalia on the external masculinization score (EMS, range 0–12), ultrasound examination, the definition of anti-Mu...