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

Abstract

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