Unknown

Dataset Information

0

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


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.

SUBMITTER: Macias-Gomez NM 

PROVIDER: S-EPMC3459706 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Macías-Gómez Nelly Margarita NM   Leal-Ugarte Evelia E   Gutiérrez-Angulo Melva M   Domínguez-Quezada Guadalupe G   Rivera Horacio H   Barros-Núñez Patricio P  

Journal of medical case reports 20120913


<h4>Introduction</h4>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 center  ...[more]

Similar Datasets

| S-EPMC7363349 | biostudies-literature
| S-EPMC6681203 | biostudies-literature
| S-EPMC4285066 | biostudies-literature
| S-EPMC10594775 | biostudies-literature
| S-EPMC8698877 | biostudies-literature
| S-EPMC5392598 | biostudies-literature
| S-EPMC6925423 | biostudies-literature
| S-EPMC5981126 | biostudies-literature
| S-EPMC2987155 | biostudies-other
| S-EPMC7933649 | biostudies-literature