Endocrine Abstracts

Introduction: DSD includes variations in the development of chromosomal, gonadal, or anatomical sex and can be subdivided into (XY DSD, XX DSD, and sex chromosomal DSD). Most presentations occur in the neonatal period with atypical genitalia or discordant phenotype and antenatal genotype, but later presentations occur raising complex diagnostic and clinical management issues.

Objective: To characterise the etiological, clinical, biochemical and management profile of CYP presenting with DSD after neonatal-period in a regional DSD-multidisciplinary team in the last 25 years.

Methods: This was a retrospective database-case note study. Inclusion:CYP patients (29 days to 18 years) diagnosed with DSD from 1/1/1998 till 30/6/2023. Data analysis involved description of the presentation features, investigations, diagnosis and timeline and psychological impact.

Results: There were a total of 333 CYP {Sex chromosome DSD (n=134), Congenital adrenal hyperplasia[CAH] (n=119) and other forms of DSD (n=81)} who presented with DSD in the specified time period. Thirty CYP (9%) presented with either XX or XY DSD (n=14 and 16 respectively) and 118(35%) patients with sex chromosome DSD (Klinefelter-syndrome n=34;Turner-syndrome n=84) beyond the neonatal period. The sex of rearing was Female:Male=26:4. In the XX and XY DSD cohort the presenting features were pubertal disturbances (15/30), atypical genitalia (8/30-of which one adolescent presented with progressive clitoromegaly in puberty), inguinal hernias (5/30) and 2/30 were incidentally diagnosed. The mean age at the time of presentation was 6.3 years(±4.6SDS) and the most common genetic diagnosis was non-classical congenital adrenal hyperplasia seen in 50% of CYP (15/30;one had 11-beta-hydroxylase deficiency). Other diagnoses included complete-androgen-insensitivity syndrome (n=7), partial gonadal dysgenesis (n=4),17-beta-Hydroxysteroid-dehydrogenase III deficiency (n=3),17-alpha-hydroxylase deficiency(n=1) and 5-alpha-reductase-deficiency(n=1). The diagnosis made by a combination of endocrine and genetic investigations. Psychological evaluation was provided in all patients. Most challenging was discussing the implications of the diagnosis on the established sex of rearing. Gender dysphoria was apparent two cases (both 46 XY DSD) raised as females.

Conclusion: As with neonatal DSD presentations, it is essential to have a multi-disciplinary team(MDT) involvement to navigate the diagnostic, management and psychological challenge.