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-Wiedem

SUBMITTER: Macias-Gomez NM 

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

REPOSITORIES: biostudies-literature