Background: In total of 48,XXYY Syndrome occurs in 1:20.0001:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produced through nondisjunction events in both meiosis I and meiosis II of spermatogenesis. Literature shows that 100% of the triploid gamete is from paternal origin.
Objective and hypotheses: We report a case of 48,XXYY Syndrome, whose father was contaminated by radioactive Cesium 3 years before the proband conception. Since radiation can induce abnormal chromosome segregation during mitotic division, we hypothesis that the fathers Cesium contamination might be responsible for this rare occurrence.
Case Report: SFAD, male, second child of a non-consanguineous young couple. At 12 years of age, he searched for genetic testing due to agenesis of hart palate and nasal septum. At 13 years of age, he was referred to the Pediatric Endocrinologist service, presenting with: tall stature, eunuchoid body habitus, ocular hypertelorism, epicanthal folds, prominent elbows, cubitus varus, single malformed kidney, bilateral inguinal hernia, pes planus, thoracic vertebrae fusion, bilateral femur-patellar arthrosis, hypergonadotrophic hypogonadism, mild intellectual disability, emotional immaturity, anxiety, impulsivity and obsessive-compulsive behaviors. He evolved with osteoporosis (14y), hypertension, insulin resistance, obesity, dyslipidemia (18y), pre-diabetes (23y), testicular volume was of 5 ml as an adult, infertility due to azoospermy. He died at age 24 due to pulmonary embolism.
Conclusion: Recognition of medical, developmental and psychological problems that are associated to 48,XXYY Syndrome is important for early diagnosis and interventions, as a way to best outcomes.This is the first reported case of 48,XXYY associated to the Cesium Accident.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology