SFEBES2018 Poster Presentations Reproduction (23 abstracts)
Where Are They Now? Review of patients diagnosed with Disorders of Sex Development since 1988
Hina Kanani 1 , Kimiya Bagheri 1 , Graham Fews 2 , Stephanie Allen 2 , Jan Idkowiak 2 , Jeremy Kirk 2 , Nils P Krone 2 , Pallavi Latthe 2 , Zainaba Mohamed 2 , Trevor Cole 2 & Helena Gleeson 3
1University of Birmingham, Birmingham, UK; 2Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK; 3University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
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 regional genetics laboratory database. Ten patients were excluded as genetic records were unavailable.
Results: Median age at presentation was 15 years (range 0–61 years), with 27 patients currently ≥18 years (adult group), and 11 patients <18 years (non-adult group). The DSD type was 46XY in 25 patients (65.8%), and 46XX in 11 patients (28.9%). The karyotype for two individuals was unavailable. Primary amenorrhoea was the commonest presentation in 46XY female patients (73.7%), and fertility disorders in the 46 XX male patients (42.9%). In the non-adult population, 36.4% presented with ambiguous genitalia. A clinical diagnosis was made in 78.9%, but there was no confirmed genetic diagnosis in 28.9%. A gene panel was employed in 23.7% of the whole group, but in only 22.2% of the adult group compared to 30.0% in the non-adult group. In 46XY female patients with androgen insensitivity, 52.6% of the adult group underwent gonadectomy, compared to 28.6% in the non-adult group. 47.1% of adults and 52.9% of non-adults have been in contact with the genetics team over the last 2 years. This accounts for 47.2% of the whole population in our study that have been under follow-up.
Conclusion: We have identified that in the WMR, patients with DSD, particularly adults, are not receiving benefits of advances in current practice in relation to making a genetic diagnosis, and are potentially lost to follow up. Development of adult services for these patients is essential.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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