Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence?

Maria Francesca Messina 1 , Tommaso Aversa 1 , Carmelo Mamì 1 , Silvana Briuglia 1 , Ilenia Panasiti 1 , Filippo De Luca 2 , and Fortunato Lombardo 1
  • 1 Department of Pediatrics, University of Messina, Messina, Italy
  • 2 Dipartimento di Scienze Pediatriche, Policlinico Universitario, Via Consolare Valeria 1 – 98124 Messina, Italy
Maria Francesca Messina, Tommaso Aversa, Carmelo Mamì, Silvana Briuglia, Ilenia Panasiti, Filippo De Luca and Fortunato Lombardo


48, XXYY is a very rare sex chromosome aneuploidy, characterized by both an extra X and Y chromosome with a prevalence of 1:18,000–1:40,000. Most patients are diagnosed prenatally by cytogenetic examination of amniotic fluid, or during the first years of life because of severe developmental delay, cognitive impairment and behavioural disorders. This syndrome shares two findings with Klinefelter syndrome, namely tall stature and hypergonadotropic hypogonadism but at this time no genital anomalies have been reported in patients with this tetrasomy. We describe a 48, XXYY neonate and a clinical picture characterized by small penis, bifid scrotum, scrotal hypospadias and testes palpable in the labioscrotal folds.

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