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Table 1 Cohort of 46,XY DSD cases with uninformative exome sequencing

From: Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-YPOS mouse model

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
  1. 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
  2. CGD/PGD complete/partial gonadal dysgenesis