Table 1

Clinical, echographic and laboratory characteristics of individual neonates with DSD and genital ambiguity

DSD typeConsanguinityPhysical characteristicsInvestigations
Labioscrotal featuresHypospadiasPrepuceGonadsChordaePhallic featuresPrader stageAbdominal
/inguinal ultrasound
17 OHP
(nmol/L)
Electrolytes
CAH 1YesPartially fusedNoNoNoEnlarged clitorisP2Uterus144Normal
CAH 2YesPartially fusedNoNoNoEnlarged clitorisP2Uterus247Normal
CAH 3NoPartially fusedNoNoNoEnlarged clitorisP2Uterus505Hyperkalaemia
/hyponatraemia
CAH 4YesCompletely fusedNoNoNoEnlarged clitorisP5Uterus546Hyperkalaemia
/hyponatraemia
Male
DSD 1
YesBifid scrotumYesAbnormalR testis: intraabdominal
L testis: hemiscrotum
YesMicropenisNDTestesNDNormal
Male DSD 2NoHypoplastic scrotumYesAbnormalBoth in inguinal regionYesMicropenisNDTestesNDNormal
Male DSD 3YesBifid scrotumYesAbnormalR testis: hemiscrotum
L testis: intraabdominal
NoMicropenisNDTestesNDNormal
  • Normal range for 17OHP (nmol/L): Premature infants: 0.8–17.0; term infants: 0.2–2.3, prepubertal children: 0.1–2.7

  • DSD, disorder of sexual development ; ND, not done.