ESPE Abstracts (2022) 95 P1-136

1Royal Hospital for Children, Glasgow, United Kingdom; 2University of Glasgow, Glasgow, United Kingdom; 3University of Lübeck, Lübeck, Germany; 4University Medical Center Utrecht, Utrecht, Netherlands; 5University Hospital Ghent, Ghent, Belgium; 6Semmelweis University, Budapest, Hungary; 7Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy; 8IRCSS AOU S.Orsola-Malpighi University Hospital, Bologna, Italy; 9Lithuanian University of Health Sciences, Kaunas, Lithuania; 10Radboud University Medical Centre, Nijmegen, Netherlands; 11Hospital Universitari Vall d’Hebron, Barcelona, Spain; 12Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; 13University of Milan, Milan, Italy; 14Azienda Ospedaliera Universitaria "Federico II", Napoli, Italy; 15Karolinska University Hospital, Stockholm, Sweden; 16Leiden University Medical Center, Leiden, Netherlands

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.

Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endocrine Conditions (EuRRECa) project.

Methods: Endocrinologists (n=19) reporting new cases of XY DSD in children (n=166) over a two-year period, from July 2018 to August 2020, were approached to complete an online survey regarding the diagnostic process in the XY DSD cases that were reported.

Results: The survey was completed for 76 cases (46%) by 15 respondents (79%) from 14 centres within 9 European countries. The median age at first presentation was 0.6 years (range 0,18.3). Clinical evaluation, biochemical tests and molecular genetic investigations were used to reach a diagnosis in 56 (74%), 46 (61%) and 29 (38%) cases, respectively and a combination of all three investigative modalities were used to establish a diagnosis in 11 (14%). Of the 76 cases, 54 (71%) and 15 (20%) were reported to have a confirmed or suspected diagnosis, respectively. In 41 cases (59%), the diagnosis was categorised as non-specific XY DSD. Amongst the 11 cases who had a combination of all three investigative modalities, only 4 (36%) had non-specific XY DSD whereas in the remaining 65 cases who did not have a combination of all three investigative approaches, the number of cases with non-specific XY DSD was 37 (56%), P=0.3. The overall median time from first presentation to the endocrine centre to diagnosis was 2 (1, 14) months. The median time taken to reach a diagnosis of a disorder of gonadal development (n=10) was 1 month (1,11) and a disorder of androgen action (n=4) was 2 months (1,4) months, whilst a label of non-specific XY DSD (n=26) was reached at 3 (1,14) months.

Conclusions: The use of detailed endocrine and genetic investigations in cases of XY DSD is variable and the time taken to reach a diagnosis in XY DSD depends on the underlying condition. Further clarity is required for the use of the term 'non-specific XY DSD', a term that may describe a case that has no identifiable hormonal or genetic abnormality of gonadal development, androgen synthesis or androgen action.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.