Sexo ambiguo con constitución cromosómica 45,X/45,X,t(Y;14)

Abstract

Ambiguous genitalia and 45,X/45,X,t(Y;14) chromosomal constitutionWe report a patient evaluated in the newborn period because of ambiguous genitalia who presented normal hormonal levels and a 45,X/45,X,t(Y;14) karyotype. During the surgical repair of an inguinal hernia, Mullerian derivates and gonads of misleading aspect were demonstrated. The histopathological study showed a streak gonad and an embriotogical teste. With the diagnosis of mixed gonadal dysgcnesis, the teste was removed. The importance of cytogenetic, hormonal and histopathological studies in the diagnostic evaluation of patients with ambiguous genitalia is stressed. The hypothesis of a half chromatid translocation could explain the structural mosaicism found.