Background: The atypical appearance of the external genitalia in a neonate, defined as the external masculinization score (EMS) less than 11, should incline the clinicians to perform diagnostic procedure ideally managed by a multidisciplinary team in a tertiary centre. Among the patients with disorders of sex development (DSD), the most challenging subgroup in terms of aetiology, is the subgroup with 46, XY karyotype.
Objective and hypotheses: To study the time of first presentation at the department of paediatric endocrinology of 46, XY DSD patients with atypical genitalia after birth and to assess whether there is a correlation between the time of first presentation and the EMS in those raised as males.
Method: We performed a retrospective analysis of 28 patients (25 raised as males, three raised as females) with 46, XY DSD that presented for the first time at our department over the last 15 years. We excluded those patients in whom the reason of undescended bilateral testis was obvious (i.e. CHARGE syndrome, prune belly syndrome, omphalocele). The analysed group was not deprived of selective bias as these patients were enrolled into further genetic study.
Results: The median time of first presentation at the department of paediatric endocrinology was 7.5 months (range: 1153). The time of first presentation was not correlated with the EMS in those raised as males (rs =0.0). The consensus on DSD issued in 2006 does not seem to influence the time of first presentation as the median time was 3 months (121) in the group that was diagnosed before 2006, and 10 months (1153) after 2006 respectively.
Conclusion: There is a strong need to study the reasons of those patients with late presentation to the paediatric endocrinologist and to promote the knowledge on DSD management in regional neonatal departments.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology