Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency
A significant percentage of individuals with 17β-HSDD and 5α-RD changed gender, and some were treated with GnRHa to prevent virilisation before making a definitive decision about gonadectomy. When left in situ, spontaneous puberty occurs and germ cell (pre)malignancies seem uncommon at least until early adulthood. Together, these data support delaying a decision about gonadectomy until late adolescence in these conditions.
Authors
- Evgenia Globa (ORCID: https://orcid.org/0000-0001-7885-8195)
- Yolande van Bever (ORCID: https://orcid.org/0000-0003-2002-9145)
- J. Wolter Oosterhuis (ORCID: https://orcid.org/0000-0002-6685-686X)
- Mona Mohammed Hashim Ellaithi (ORCID: https://orcid.org/0000-0002-8380-0227)
- Büşra Gürpınar Tosun (ORCID: https://orcid.org/0000-0002-7588-9807)
- Leendert H. J. Looijenga (ORCID: https://orcid.org/0000-0002-8146-1911)
- Olaf Hiort (ORCID: https://orcid.org/0000-0001-7490-4983)
- Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
- Sabine E Hannema (ORCID: https://orcid.org/0000-0002-8996-0993)
- Angela Lucas-Herald (ORCID: https://orcid.org/0000-0003-2662-1684)
- Remko Hersmus (ORCID: https://orcid.org/0000-0001-5250-3572)
- S. Faisal Ahmed (ORCID: https://orcid.org/0000-0003-0689-5549)
- Federico Baronio (ORCID: https://orcid.org/0000-0003-3470-6880)
- Marianna Rita Stancampiano
- Lidewij Sophia Boogers (ORCID: https://orcid.org/0000-0002-0952-9168)
- Hennie T. Brüggenwirth (ORCID: https://orcid.org/0000-0003-4303-8896)
- Marek Niedziela (ORCID: https://orcid.org/0000-0001-8862-6937)
- Katja P. Wolffenbuttel
- Paul‐Martin Holterhus (ORCID: https://orcid.org/0000-0002-9308-3129)
- Jillian Bryce
- Kenneth MсElreavey
- Martine Cools (ORCID: https://orcid.org/0000-0002-9552-4899)
Institutions
- Poznan University of Medical Sciences (PL)
- Institut Pasteur (FR)
- Al-Neelain University (SD)
- Royal Hospital for Children (GB)
- Ghent University Hospital (BE)
- San Raffaele University of Rome (IT)
- University Medical Center Utrecht (NL)
- Christian-Albrechts-Universität zu Kiel (DE)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Ministry of Health (UA)
- Princess Máxima Center (NL)
- Erasmus MC Cancer Institute (NL)
- Amsterdam University Medical Centers (NL)
- Center for Human Reproduction (US)
- Marmara University (TR)
- University of Glasgow (GB)
- Vrije Universiteit Amsterdam (NL)
- Erasmus University Rotterdam (NL)
- University of Lübeck (DE)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1093/ejendo/lvae154
- Citations
- 3
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- European Society for Paediatric Endocrinology
- Neurocrine Biosciences
- European Commission
- Medical Research Council Canada
- Medical Research Council