A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)]

We report the case of a three years old male child who showed ambiguous genitalia in a setting of multiple malformations. Disorders of sex development (DSD) are due to many different causes, such as chromosome abnormalities, or alterations in transcription factors, receptors, and hormones implicated in sexual differentiation during fetal life. Here we describe a case of partial deletion 7q ter associated with partial trisomy 16p as a new chromosome anomaly associated with ambiguous genitalia. We have attempted to analyse the individual contributions of chromosomes 7 and 16 in the pathogenesis of the sex malformation in our patient. Keywords: ambiguous genitalia | chromosome 7 | chromosome 16 | unbalanced translocation
Introduction There are many causes of ambiguous genitalia, recently renamed 'disorders of sex development' (DSD). This generic definition includes any congenital condition in which the development of chromosomal, gonadal, and [...]