title: 46,XX ovotesticular disorder in a Mexican patient with Beckwith-Wiedemann syndrome: a case report.
abstract: BACKGROUND
  Beckwith-Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith-Wiedemann syndrome cases are sporadic. Beckwith-Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region. This case report describes, for the first time, the unusual association of ovotesticular disorder in a patient from Morelia, Mexico with Wiedemann-Beckwith syndrome.
  
  
  METHODS
  We report the case of a Mexican six-year-old girl with Beckwith-Wiedemann Syndrome, ambiguous genitalia, and bilateral ovotestes. She has a 46,XX karyotype without evidence of Y-chromosome sequences detected by fluorescence in situ hybridization with both SRY and wcp-Y probes.
  
  
  CONCLUSIONS
  Although a random association between these two conditions cannot be excluded, future analysis of this patient with Beckwith-Wiedemann syndrome and 46,XX ovotesticular disorder may lead to new insights into these complex pathologies. We speculate that a possible misregulation in the imprinted genes network has a fundamental role in the coexistence of these two disorders.
authors.affiliation: Departamento de Salud y Bienestar, Centro Universitario del Sur, U de G, Av, Prolongación Colón s/n, Km, 1, Carretera Cd, Guzmán-Guadalajara, Ciudad Guzmán, Jalisco, 49000, Mexico. nellymacias_2000@yahoo.com.mx.
authors.forename: Nelly Margarita
authors.initials: NM
authors.lastname: Macías-Gómez
authors.forename: Evelia
authors.initials: E
authors.lastname: Leal-Ugarte
authors.forename: Melva
authors.initials: M
authors.lastname: Gutiérrez-Angulo
authors.forename: Guadalupe
authors.initials: G
authors.lastname: Domínguez-Quezada
authors.forename: Horacio
authors.initials: H
authors.lastname: Rivera
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros-Núñez