Co-existence of goldenhar and klinefelter syndromes in a patient born following ICSI

Abstract

Intracytoplasmic sperm injection (ICSI) is a widespread and powerful method enabling men with low sperm quantity and quality to become fathers. However, compared with naturally conceived children, there are increased risks of problems, such as congenital malformations, chromosomal abnormalities, infertility, epigenetic diseases, and delayed neuropsychological development in the offspring. We present the case of 6-year-old male patient born following ICSI with clinical and radiological features of Goldenhar syndrome as well as a history of surgery for unilateral cryptorchidism. His karyotyping showed a chromosomal constitution of 47, XXY. Clinicians should be aware of the risks of an increasing number of patients born following ICSI to maximize children’s health and welfare.