Clinical Heterogenicity in Children with Ovotesticular Disorder of Sex Development: Experience at Children’s Hospital of Mexico Federico Gomez

Introduction: DSD are congenital alterations in which either sexual chromosomes, gonadal or anatomical development atypical. It is estimated that about 1 every 4500 live births has some type of DSD, ovotesticular representing around 3-10% the cases. Given rarity it an underexplored area, and little known DSD. Materials Methods: A retrospective study on patients diagnosed with Ovotesticular a tertiary medical center from 2009 to 2018. The clinical presentation, phenotype, features, gender assignment management were evaluated. Results: total 184 cases matched initial search criteria. Only 9 confirmed histopathological diagnosis selected. Eight out nine evaluated presented ambiguous genitalia at birth, only one was detected until pubertal age presence bilateral gynecomastia. female 46 XX karyotype reported six patients, whereas remaining three had mosaicism. Four time study, them required induction puberty due lack steroid production loss organs. Discussion: rare finding heterogeneous spectrum concerning its genetic etiology, surgical findings. Most during infancy childhood; few age. Conclusion: Actual decision assigning treatment challenging debatable; therefore, scrupulous examination, as well hormonal, imaging, molecular investigation needed for correct diagnosis. Further fully understand disease.