Down syndrome with ambiguous genitalia: A rare association

  • Rahul Valsaraj
  • Soumik Goswami
  • Arindam Ray
  • Nilanjan Sengupta
  • Pranab Kumar Sahana
  • Arjun Baidya


Down syndrome (DS) is one of the most common chromosomal disorders. Although genitourinary anomalies, such as a cryptorchidism, micropenis, posterior urethral valves, and hypospadias, have been recognized as complications, the association of ambiguous genitalia with DS has been rarely reported. We report the case of a 1-year-old baby; assigned male sex at birth who was the first child born of a non-consanguineous marriage, by vaginal delivery at term with a birth weight of 2.2 kg. The baby had clinical features suggestive of DS with a micropenis, penoscrotal hypospadias, and incompletely fused labial-scrotal folds with palpable gonads. The external masculinization score was 3/12. The child was reared as a male and hormonal investigations were suggestive of androgen insensitivity. Karyotype was 47, XY, +21.

Keywords: Ambiguous genitalia, Androgen insensitivity, Down syndrome
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How to Cite
Valsaraj, R., Goswami, S., Ray, A., Sengupta, N., Sahana, P., & Baidya, A. ( ). Down syndrome with ambiguous genitalia: A rare association. Indian Journal of Case Reports, 4(6), 447-449.
Case Report

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