Valsaraj, RahulGoswami, SoumikRay, ArindamSengupta, NilanjanSahana, Pranab KumarBaidya, Arjun2020-01-022020-01-022018-11Valsaraj Rahul, Goswami Soumik, Ray Arindam, Sengupta Nilanjan, Sahana Pranab Kumar, Baidya Arjun. Down Syndrome With Ambiguous Genitalia: A Rare Association. Indian Journal of Case Reports. 2018 Nov; 4(6): 447-4492454-129X2454-1303http://imsear.searo.who.int/handle/123456789/190473Down 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.Journal ArticleIndiaPost Doctoral Trainee, Nilratan Sircar Medical College, Kolkata, West Bengal, IndiaRMO Cum Clinical Tutor, Nilratan Sircar Medical College, Kolkata, West Bengal, IndiaProfessor and Head, Nilratan Sircar Medical College, Kolkata, West Bengal, IndiaAssociate Professor, Nilratan Sircar Medical College, Kolkata, West Bengal, IndiaAssistant Professor, Department of Endocrinology, Nilratan Sircar Medical College, Kolkata, West Bengal, India