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 |
Anatomical description follows the standardized nomenclature in Hennekam et al. [55], except when only historical description was available in patient’s file. Patient IDs refer to cases enrolled for research purposes (RDSD) or enrolled through the UCLA clinical genomic center (CDSD). Numbering is not consecutive to maintain consistency with the numbering in Baxter et al. [22] for patients who are in both cohorts
CGD/PGD complete/partial gonadal dysgenesis