Searchable abstracts of presentations at key conferences in endocrinology

ea0032p288 | Clinical case reports - Thyroid / Others | ECE2013

Clinical case report: male patient with SRY-positive 46,XX testicular disorder of sex development

Dominguez-Lopez Marta , Gonzalez-Molero Inmaculada , Esteva Isabel , Gonzalo-Marin Montserrat , de Adana MSoledad Ruiz , Soriguer Federico

The 46 XX male syndrome (de la Chapelle syndrome or 46,XX testicular disorder of sex development -46,XX testicular DSD-) is a rare phenotype associated with disorder of the sex chromosomes. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization.Clinical report: We describe the clinical, molecular, and cytogenetic findings of a 26-year...