Table 1 Cohort of 46,XY DSD cases with uninformative exome sequencing
Patient ID | Category | DSD category | Clinical features |
|---|---|---|---|
RDSD002 | 1 | 46,XY female, CGD | – |
RDSD003 | 1 | 46,XY female, PGD | No uterus; Fallopian tubes present; short vagina; very low T and undetectable estradiol; gonads not found |
RDSD004 | 1 | 46,XY female, GD | – |
RDSD006 | 2 | 46,XY female | Amelia (missing limbs) |
RDSD007 | 1 | 46,XY female, GD | Adrenal rests |
RDSD010 | 2 | 46,XY female | Clitoromegaly |
RDSD011 | 2 | 46,XY female | Short stature |
RDSD012 | 2 | 46,XY female | Kidney disease; possible Denys-Drash syndrome |
RDSD013 | 1 | 46,XY female, CGD | Normal uterus and Fallopian tubes; streak gonads |
RDSD018 | 3 | 46,XY ambiguous genitalia | Partial fusion of labioscrotal folds; small phallus; penoscrotal hypospadias |
RDSD020 | 3 | 46,XY ambiguous genitalia | Developmental delay; agenesis of corpus callosum |
RDSD021 | 3 | 46,XY ambiguous genitalia | Adrenal hypoplasia congenita; dysmorphic features |
RDSD022 | 3 | 46,XY ambiguous genitalia | Microcephaly; intestinal dysmotility; optic nerve hypoplasia |
RDSD025 | 4 | 46,XY male, micropenis/cryptochidism | Severe growth and developmental retardation; testes not seen by ultrasound |
CDSD029 | 4 | 46,XY male, hypospadias | – |
CDSD030 | 2 | 46,XY female | Large clitoris; no uterus or vaginal opening; inguinal testes |
CDSD031 | 3 | 46,XY ambiguous genitalia, CGD | Abdominal gonads with no oocytes; no seminiferous tubules; no clitoromegaly; posterior fusion of labia; urogenital sinus |
CDSD032 | 2 | 46,XY female | Inguinal testes w/ immature seminiferous tubules; no uterus or Fallopian tubes; deafness; impaired cognition |
CDSD034 | 3 | 46,XY ambiguous genitalia | Undescended testes; bifid scrotum; hypospadias |
CDSD036 | 3 | 46,XY ambiguous genitalia | Bilateral descended testes; midshaft hypospadias; chordee |
CDSD039 | 4 | 46,XY male, micropenis | No uterus or ovaries per ultrasound; ambiguous genitalia; undervirilization |
RDSD041 | 2 | 46,XY female | Complete androgen insensitivity syndrome |
RDSD042 | 4 | 46,XY male, hypospadias | – |
RDSD043 | 1 | 46,XY female, GD | – |
RDSD044 | 4 | 46,XY male, anorchia | Congenital bilateral anorchia; fully formed scrotum; definite penis (mildly shortened); no hypospadias; responsive to testosterone |
RDSD045 | 4 | 46,XY male, hypospadias/cryptorchidism | Azoospermia; high T levels |
RDSD046 | 2 | 46,XY female | Multiple congenital anomalies; no uterus; abdominal gonads—testes |
RDSD047 | 4 | 46,XY male, microphallus | Hypogonadism; hypospadias |
RDSD048 | 4 | 46,XY male, micropenis | – |
RDSD049 | 4 | 46,XY male, hypospadias | – |
CDSD050 | 4 | 46,XY male, hypospadias | Chordee; bifid scrotum; cryptorchidism |
CDSD051 | 2 | 46,XY female | Growth delay; short stature |