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|Title:||46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report.|
|Keywords:||ovotesticular disorder;Beckwith–Wiedemann syndrome|
|Publisher:||Journal of Medical Case Reports.|
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.
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.
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.|
Departamento de Salud y Bienestar, Centro Universitario del Sur, U de G., Ciudad Guzmán, Jalisco, Mexico. Unidad Académica de Ciencias de la Salud y Tecnología, UAT, Matamoros, Tamps, Mexico. Centro Universitario de Los Altos, U de G, Tepatitlán de Morelos, Jalisco, Mexico. Centro de Investigación Biomédica de Occidente-IMSS, Guadalajara, Jalisco, Mexico.
|Other Identifiers:||Macías-Gómez, N., Leal-Ugarte, E., Gutiérrez-Angulo, M., Domínguez-Quezada, G., Rivera, H., & Barros-Núñez, P. (2012). 46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report. Journal of Medical Case Reports, 6(1), 301. http://doi.org/10.1186/1752-1947-6-301|
|Appears in Collections:||CUALTOS|
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