Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/62716
Title: 46,XX ovotesticular disorder in a Mexican patient with Beckwith-Wiedemann syndrome: A case report
Author: MacIas-Gamez, N.M.
Leal-Ugarte, E.
Gutierrez-Angulo, M.
Dominguez-Quezada, G.
Rivera, H.
Barros-Nuez, P.
Issue Date: 2012
Abstract: Introduction: 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. Case presentation: 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. Conclusion: 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. © 2012 Macias-Gomez et al.; licensee BioMed Central Ltd.
URI: http://hdl.handle.net/20.500.12104/62716
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