Sexual and developmental aspects of 49, XXXXY Syndrome: A case report.

49, XXXXY syndrome is one of the rarest sexual chromosome disorders, with an incidence of 1:85000-100000 males. It is caused by nondisjunction of the X chromosomes in both meiosis I and II. Early intervention is vital to improve behavioural, neural and sexual well-being. Information about sexual and developmental aspects is extremely limited in previous literature. We present a case of a 26-month-old male child presenting with hypotonia, micropenis and bilateral cryptorchidism. Karyotype study was done in Jordan at the age of 16 months and revealed 49, XXXXY syndrome. Global developmental delay, hypotonia and weak truncal muscles were noted on examination. Growth parameters were within normal limits. Kidney ultrasound revealed findings suggestive of Vesicoureteral reflux. Laboratory investigations revealed hypoandrogenism with normal 17-OHP levels. This study reviews current knowledge about sexual and developmental characteristics of 49, XXXXY syndrome.