Down Syndrome With Ambiguous Genitalia: A Rare Association

Thumbnail Image
Files
ijcr2018v4n6p447.pdf (575.36 KB)
Date
2018-11
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Atharva Scientific Publications
Abstract
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.
Description
Keywords
Citation
Valsaraj 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): 447-449
URI
https://imsear.searo.who.int/handle/123456789/190473
Collections
Indian Journal of Case Reports