Disorders of sex development (DSD) is a congenital condition in which there are disorders of sex development on chromosomes, gonads, and anatomy. The spectrum of these disorders is very broad, so that its incidence and characteristics are difficult to identify. The aim was to describe the characteristics of DSD patients at our institution.
Methods: This is a retrospective descriptive of patients diagnosed with DSD in the period January 2017 - December 2019. Data were taken from medical records including ages, type of DSD and their management.
Results: There were 70 patients with DSD, with a mean age of 6,74 years (range 0-19 years). Sixty four patients (91,42%) were raised as boys, with genotype 46 XY 90,62%, 46 XX 4,68%, 45 XO-46 XY 3,12%, and 47 XXY 1,56%. A total of 6 patients with genotype 46 XX (8,57%) were raised as girls. Four cases were DSD 46 XX (CAH 2,8%), DSD 46 XY was present in 54 cases, while chromosomal DSD was present in 4 cases including ovotesticular type, testicular type, Klinefelter Syndrome, embryogenic testis regression, and persistent Mullerian Tract Syndrome. A total of 2,8% experienced gender reassignment to become girls and 2,8% become boys. There were 78,57% who had undergone masculinized genitoplasty, 7,14% had undergone feminization genitoplasty, 14,28% had not undergone surgery, and 2,8% had not yet determined their gender.
Summary: DSD patients at our institution presented in preschool, with a predominantly 46 XY genotype, most of whom did not undergo gender reassignment, and surgical management was gender-adjusted.