Endocrine Abstracts

Chromosomal disorders are caused by variations in the number of chromosomes and these can be related to either autosomal or sex chromosomes. Among those, trisomy is most prevalent among live births. Down syndrome and Klinefelter syndrome both leads to aneuploidies due to nondisjunction of autosomal and sex chromosomes, respectively. Nonetheless, the global occurrence of a single person having double chromosomal aneuploidy is relatively rare. Here, we report a case of Down-Klinefelter syndrome, a double aneuploidy, in a two-year-old boy who presented to us with ambiguous genitalia and characteristic features of Down syndrome such as epicanthus, bilateral squint, cataract, flat nasal bridge, and simian crease. Double aneuploidy (48, XXY,+21) has been identified by karyotypic analysis, which is suggestive of Down-klinefelter syndrome. Early diagnosis is crucial for counselling and planning for future pregnancies. Chromosomal analysis is strongly suggested for children with a typical Down syndrome phenotype. Early diagnosis of Down-Klinefelter syndrome can impact both short and long-term outcome for these children.