ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)
1Faculty of Medical Sciences, Medical University of Silesia, Department of Pediatrics and Pediatric Endocrinology, Katowice, Poland; 2The University Hospital, Kraków, Poland; 3Upper Silesian Child Health Center, Public Clinical Hospital No. 6 of the Silesian Medical University, Institute of Psychology, University of Silesia, Katowice, Poland.
JOINT3424
Introduction: There are many doubts around the etiology of gender incongruence and the increasing number of transgender and gender diverse children and adolescents (TGDC&A) seeking endocrine treatment.
Aim: We assume that based on urinary steroidal gas chromatography-mass spectrometry (GC-MS), we can look deeply at steroidogenesis in TGDC&A following the concept of delineating steroid metabolomic signature.
Methods: This prospective study has examined consecutive series of 269 TGDC&A with mean/median age of 15.8/16.1 yrs diagnosed in accordance with WPATH SOC-8 in one university center between July/2017 and Sep/2024. Clinical and laboratory data was collected in unified medical records. Steroid metabolites in 24-h-urine samples were analyzed by quantitative targeted GC-MS.
Results: Urinary samples from 232 TGDC&A (194 RFAB-registered female at birth, 38 RMAB registered male at birth) were analysed. The values of metabolites were assessed according to age/sex specific norms and presented as % of samples which are above or below norms (table present selected metabolites with important findings). RFAB patients with earlier gender dysphoria presented significantly lower concentration of androsterone and etiocholanolone (metabolites of DHEA, androstenedione and testosterone).
Steroid metabolites (origin) | N-norms | All (n = 232) | RFAB (n = 194) | RMAB (n = 38) |
AN (DHEA, androstenedione and testosterone, C19) | <N | 2.6% | 2.1% | 5.3% |
>N | 10.3% | 10.8% | 7.9% | |
DHA (DHEA-sulfate) | <N | 1.3% | 1.0% | 2.6% |
>N | 34.5% | 38.1% | 15.8% | |
5-AND (DHEA) | <N | 0.0% | 0.0% | 0.0% |
>N | 40.5% | 44.8% | 18.4% | |
16a-OHDHA (DHEA-sulfate) | <N | 0.4% | 0.0% | 2.6% |
>N | 47.4% | 53.6% | 15.8% | |
5-PT (17-hydroxyprogesterone) | <N | 0.0% | 0.0% | 0.0% |
>N | 19.0% | 22.2% | 2.6% | |
17-OHPN (5beta) (17-hydroxyprogesterone) | <N | 1.3% | 0.0% | 7.9% |
>N | 26.7% | 31.4% | 2.6% | |
PT (17-hydroxyprogesterone) | <N | 0.0% | 0.0% | 0.0% |
>N | 25.4% | 29.9% | 2.6% | |
PD (progesterone) | <N | 1.3% | 0.0% | 7.9% |
>N | 12.1% | 13.9% | 2.6% | |
F/E | <N | 16.8% | 19.6% | 2.6% |
>N | 0.0% | 0.0% | 0.0% |
Conclusion: Transgender and gender diverse children and adolescents, mainly whose registered female at birth, present unique steroid metabolome signature. This needs further studies to explain whether these findings are useful, in some way, to explain etiology.