ESPE Abstracts

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.

Material and Methods: We could retrospectively analyze the etiology distribution of the DSD diagnosed by the Pediatric Endocrinology Unit of University of Padua, which most patients of a large area of the North-Eastern Italy refer to. To analyze the time trend of diagnosis, we considered 3 periods: before 2002, from 2002 to 2009 and from 2010 to 2018. Moreover, we reviewed outpatients' data to obtain the type of diagnosis, the date and the age at diagnosis. DSD were classified following 2005 Chicago Consensus Conference.

Results: in the whole reviewing Registry data we counted 374 new DSD diagnoses. Outpatients' data from 147/374 were obtained. Among them, the distribution of DSD diagnosis was as follows: 58 Sex Chromosome DSD, 34 46,XY DSD and 55 46,XX DSD. In 104 patients, age at diagnosis was available. The median age at diagnosis resulted significantly higher in patients diagnosed between 2010 and 2018 in comparison with the other two periods (P=0.003), with an higher, albeit not significant, frequency of 46, XY DSD diagnosis. Indeed, among the 28 patients with 46, XY DSD in which the date of diagnosis was available, 7% were diagnosed before 2002, 25% between 2002 and 2009 and 66% between 2010 and 2018. The median age at diagnosis was significantly higher in patients diagnosed after 2002 (85%) in comparison to patients diagnosed before 2002 (16%) (P=0.02).

Conclusions: Our analysis showed a trend towards an increase in the total number of DSD diagnoses over the years. With the limit represented by a lack of a Registry, before 2002 nearly all the diagnosis were made at birth, by the evidence of ambiguous genitalia, coming mostly from classical CAH (50%) and Sex Chromosome DSD (35%). We observed a trend towards an higher age at diagnosis in the 2010-2018 period, with an increased in 46,XY DSD diagnosis. We suggest that this different distribution may be due to a progressively wider use of prenatal chromosomal sex determination and a better management of the early adolescence clinical signs by the Pediatric Endocrinologists.The ongoing study of all our patient's data could better define these hypotheses.