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01.12.2012 | Case report | Ausgabe 1/2012 Open Access

Journal of Medical Case Reports 1/2012

46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2012
Autoren:
Nelly Margarita Macías-Gómez, Evelia Leal-Ugarte, Melva Gutiérrez-Angulo, Guadalupe Domínguez-Quezada, Horacio Rivera, Patricio Barros-Núñez
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-6-301) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

Our patient was admitted and followed in-house by BNP, MGN and LUE. GAM, RH and DQG performed the laboratorial test. MGN and RH performed the major contribution in writing the manuscript. All authors read and approved the final manuscript.

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.

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Zusatzmaterial
Authors’ original file for figure 1
13256_2012_2239_MOESM1_ESM.jpeg
Authors’ original file for figure 2
13256_2012_2239_MOESM2_ESM.jpeg
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