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Endocrine Abstracts (2025) 110 P113 | DOI: 10.1530/endoabs.110.P113

1Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; 2Department for BioMedical Research, University of Bern, Bern, Switzerland; 3Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital Das Clinicas, Faculdade De Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil; 4Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, Bern, Switzerland; 5Children’s Hospital of Easter Switzerland, Paediatric Endocrinology & Diabetology, St. Gallen, Switzerland; 6Universitäts-Kinderklinik beider Basel (UKBB), Paediatric Endocrinology & Diabetology, Basel, Switzerland; 7Yerevan State Medical University, Wigmore Women’s & Children’s Hospital, Yerevan, Armenia; 8Women’s and Children’s Health, Karolinska Institutet, and Gynecology and Reproductive Medicine, Karolinska University Hospital,, Stockholm, Sweden; 9Charité-Universitätsmedizin Berlin, Clinic for paediatric endocrinology and diabetology, Berlin, Germany; 10Pediatric Endocrinology and Diabetology, Ensemble hospitalier de la Côte, Morges, and Hôpital du Valais, Switzerland; 11Swiss Childhood Cancer Registry, Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland


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Background: Androgen excess in 21-hydroxylase deficiency (21OHD) remains challenging. Combined oral contraceptives (OCs) containing ethinylestradiol and progestin are known to affect both ovarian and adrenal androgen levels. In a pilot study, we observed a positive effect of combined OCs on the androgen status in women with classic congenital adrenal hyperplasia (CAH). Therefore, we aimed to prospectively investigate how combined OCs affect the steroid metabolome in young women with classic 21OHD.

Methods: We enrolled women aged 11-26 with classic 21OHD treated with hydrocortisone and mostly fludrocortisone from eight international centres who planned to start combined OCs. The study comprised three visits, including blood-drawing and 24-h-urine sampling: baseline (Visit-1, prior to OCs), three cycles post-OC-initiation (Visit-2), and six cycles post-initiation (Visit-3). Liquid chromatography-mass spectrometry (LC–MS) and gas-chromatography mass spectrometry (GC–MS) were utilized for steroid analysis. Differences in steroid metabolite levels across the three visits were assessed using the Friedman-test.

Results: The 17 participating young women had a median age of 18.7 years (range 11-26 years). Compared to before OC-intake, we saw a substantial decrease in plasma 17α-hydroxyprogesterone, androstenedione, dehydroepiandrosterone, testosterone (all P <0.001) and 11-ketotestosterone (P=0.004) under OCs, whilst cortisol levels increased. The levels of relevant urinary androgen metabolites, including 11-oxo-pregnanetriol, also showed a significant decrease (Table 1). Between visits 1 and 3, seven out of 17 (41%) women could reduce their hydrocortisone doses.

Table 1: Urine metabolites (nmol/24h).
Median (P25-P75)
Urine metabolitesVisit-1Visit-2Visit-3P-value
Androsterone767.9 (398.5–1619.2)131.6 (39.0–632.1)77.9 (35.3–537.0)<0.001
Etiocholanolone469.7 (310.8–781.8)83.1 (32.1–473.8)57.3 (31.4–405.0)0.002
11-Oxo-etiocholanolone258.8 (187.9–359.0)98.5 (77.4–166.9)97.7 (60.1–173.2)0.002
11β-OH-androsterone740.3 (367.8–1474.5)112.1 (73.1–480.8)106.4 (61.8–278.8)<0.001
11β-OH-etiocholanolone169.9 (114.4–211.5)100.7 (60.1–181.8)100.9 (72.7–139.2)0.029
11-Oxo-pregnanetriol233.4 (64.7–402.6)23.3 (6.2–183.9)18.3 (10.8–59.2)<0.001

Conclusion: Our results suggest that combined oral contraceptives have a significant potential in lowering androgen levels, thereby improving the steroid metabolome in women with classic 21OHD. OC-treatment could therefore serve as an effective supplementary therapy in women with 21OHD, particularly in those with an unsatisfactory steroid profile.

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

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