Endocrine Abstracts

Disorders of sex development (DSDs) refer to a range of congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present in the newborn period where ambiguous genitalia often prevents immediate gender assignment or during the adolescent period where atypical sexual development becomes apparent. Genetic testing is key in establishing the diagnosis allowing for personalised management of these patients, and can significantly reduce th...

Background: As diagnostic workup and management of patients with Disorders of Sex Development (DSD) evolves, access to the latest advances should continue.Aims: To explore whether DSD patients in the West Midlands Region (WMR) remain under follow up, having optimal diagnostic workup and management.Method: An unselected cohort of 48 patients with discrepant phenotypic gender and sex chromosomes in the WMR were identified from the re...