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Endocrine Abstracts (2025) 110 EP1417 | DOI: 10.1530/endoabs.110.EP1417

ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)

Steroid metabolome signature of transgender and gender diverse treatment-naïve adolescents – 7-year experience in the first gender unit dedicated to youth in Poland

Aneta Gawlik-Starzyk 1 , Wiktoria Kempińska 1 , Aleksandra Antosz 1 , Aleksandra Januszek-Trzciąkowska 1 , Dorota Karbowska 1 , Jakub Gawlik 2 & Tomasz Jakubowski 3


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).

Table 1.
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.

Volume 110

Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025: Connecting Endocrinology Across the Life Course

European Society of Endocrinology 
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