Transdisciplinary management of patients with disorders of sexual development in Colombia. Limiting factors for appropriate management

Introduction Disorders of sex development (DSD) are present in 0.76 per 4,500 births. The management is complex and requires the ability of a multi-disciplinary team, which can have a positive impact on the prognosis. The aim of this article is to describe a population managed by a cross-disciplinary DSD group in our environment, and presenting the limitations faced by our patients in the care of their conditions. Methodology Description of the follow-up of patients with DSD by a cross-disciplinary group since 2007. The DSD clinical approach and genetic and diagnostic processes are described. Also a description of cases taken to surgery and their postoperative course was also evaluated from a medical and administrative point of view. Result The study included 55 patients wIth DSD, with the most common disease being congenital adrenal hyperplasia. The mean follow-up was 17.2 months. Surgery was performed in 36% of cases due to their condition, with a mean age of 5 years at the time of surgery. An initial extra-institutional initial assessment was never made by a multidisciplinary group, and only 72% were studied by karyotype analysis by analysing 25 metaphases. None of the cases were diagnosed as having mosaicism when 25 metaphases were analysed, but were detected after extending the analysis to 100 metaphases. Eighteen percent had gender reasigned. Conclusions DSD are very complex diseases that require comprehensive treatment by multiple specialties. This is demonstrated by clear reduction in complications, costs and most importantly, an improvement in prognosis and reduction in disability. In our environment, limitations by the health system provides is alarming. A comprehensive treatment by a cross-disciplinary team to these patients is far from optimal. It is important that health care providers are aware of cross-disciplinary groups in order to promote proper treatment.