Table 1.

Broad categories of Disorders/Differences in Sex Development (DSD) based upon type of origin, “gonadal” or “hormonal”.

Origin	46,XY DSD	46,XX DSD
DSD at the gonadal level	Gonadal dysgenesis (gonads are streaks of fibrous tissue) female Müllerian) ducts and variably feminized external genitalia Infertility	Gonads are testicular or partially testicular Male ducts Male or masculinized external genitalia Infertility
DSD at the hormonal level	Gonads typically testes Female ducts absent (AMH present) Partial or complete feminization of ducts and external genitalia due to androgen insensitivity (AIS)	Gonads typical ovaries Male ducts usually regressed External genitalia variably masculinized Elevated androgen levels, typically due to adrenal hyperplasia (CAH)
Methods of DSD diagnosis	-Prader scale for external genitalia -Ultrasound/laparoscopy of gonads and internal ducts -Karyotype analysis (46,XX, 46,XY, 46,X0, 46,XXY) -Biochemistry/endocrinology (e.g., steroid and peptide hormone levels) -Targeted gene mutation screening (e.g., SF1, SRY, CYP21A1, AR genes) -Whole genome or exome sequencing