A newborn case of double-male syndrome (48, XXYY)

Abstract

Introduction: The 48, XXYY syndrome represents a chromosomal aneuploidy which consists in the presence of an extra X and Y chromosome in males. It has an incidence of 1/18 000 to 1/40000 male births. For a long time 48, XXYY syndrome was considered as a variant of Klinefelter syndrome, but nowadays it represents a distinct disorder due to associated comorbidities: mental retardation and psychiatric disorders. Case presentation: We report the case of a newborn boy, who presented at physical examination craniaofacial dysmorphism consisting of hypertelorism, enlarged bitemporal diameter, flat occiput, downwardly and oblique displaced ears, short lingual frenulum and clinodactyly of the fifth digit. Transfontanelar ultrasound identified two left choroid plexus cysts of 0,4/0,4 cm. Abdominal and cardiac ultrasonography showed no abnormalities. The karyotype analysis revealed a chromosomal aneuploidy with 48, XXYY formula. Conclusion: We reported a case of 48, XXYY syndrome diagnosed immediately after birth, a rare disorder with approximately 100 cases reported in literature to date and to the best of our knowledge, the first reported case in Romania.