Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis
This study highlights the heterogeneous phenotype of PGD and the consequent diagnostic challenge. Many PGD patients with preserved gonads have the potential to develop puberty spontaneously, though further study is needed to determine the risk of developing gonadal tumors.
Authors
- Mars Skae (ORCID: https://orcid.org/0000-0002-8226-2148)
- Şükran Poyrazoğlu (ORCID: https://orcid.org/0000-0001-6806-9678)
- Małgorzata Waśniewska (ORCID: https://orcid.org/0000-0002-8299-2677)
- Zofia Kolesińska
- Ieuan A. Hughes
- Evgenia Globa (ORCID: https://orcid.org/0000-0001-7885-8195)
- Berenice B. Mendonça (ORCID: https://orcid.org/0000-0003-1762-1084)
- Justin H. Davies (ORCID: https://orcid.org/0000-0001-7560-6320)
- Ajay Thankamony (ORCID: https://orcid.org/0000-0001-6290-3553)
- Koen Van de Vijver (ORCID: https://orcid.org/0000-0002-2026-9790)
- Márta Korbonits (ORCID: https://orcid.org/0000-0002-4101-9432)
- Olaf Hiort (ORCID: https://orcid.org/0000-0001-7490-4983)
- Elaine de Paula Fiod Costa (ORCID: https://orcid.org/0000-0001-9357-2427)
- Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
- Andréa Trevas Maciel‐Guerra (ORCID: https://orcid.org/0000-0002-4850-8079)
- Sorahia Domenice (ORCID: https://orcid.org/0000-0002-4883-7630)
- Jimena Lopez Dacal (ORCID: https://orcid.org/0000-0003-0116-8705)
- Sabine E Hannema (ORCID: https://orcid.org/0000-0002-8996-0993)
- Gabriella Gazdagh (ORCID: https://orcid.org/0000-0002-5039-1033)
- Nathália Lisboa Gomes (ORCID: https://orcid.org/0000-0002-1072-7903)
- Angela Lucas-Herald (ORCID: https://orcid.org/0000-0003-2662-1684)
- Rieko Tadokoro‐Cuccaro (ORCID: https://orcid.org/0000-0003-4012-7033)
- Simona Fica (ORCID: https://orcid.org/0000-0002-9676-7497)
- Renata Thomazini Dallago (ORCID: https://orcid.org/0000-0002-0754-0718)
- Anders Juul (ORCID: https://orcid.org/0000-0002-0534-4350)
- S. Faisal Ahmed (ORCID: https://orcid.org/0000-0003-0689-5549)
- Federico Baronio (ORCID: https://orcid.org/0000-0003-3470-6880)
- Zainaba Mohamed (ORCID: https://orcid.org/0000-0003-1337-7889)
- Erica L T van den Akker (ORCID: https://orcid.org/0000-0001-5352-9328)
- Marianna Rita Stancampiano
- Daniel Konrad (ORCID: https://orcid.org/0000-0001-9067-4356)
- Ayla Güven (ORCID: https://orcid.org/0000-0002-2026-1326)
- Gloria Herrmann
- Rajni Sharma (ORCID: https://orcid.org/0000-0003-1009-4154)
- Juliana Gabriel Ribeiro de Andrade (ORCID: https://orcid.org/0000-0003-1434-9994)
- Nina Lenherr‐Taube (ORCID: https://orcid.org/0000-0001-8918-3963)
- Renata Markosyan (ORCID: https://orcid.org/0000-0003-0860-2340)
- Rafael Loch Batista (ORCID: https://orcid.org/0000-0002-5461-0301)
- Feyza Darendelıler (ORCID: https://orcid.org/0000-0003-4786-0780)
- Gil Guerra‐Júnior (ORCID: https://orcid.org/0000-0002-2991-7678)
- Rodolfo Alberto Rey (ORCID: https://orcid.org/0000-0002-1100-3843)
- Marek Niedziela (ORCID: https://orcid.org/0000-0001-8862-6937)
- Markus Bettendorf (ORCID: https://orcid.org/0000-0002-7988-0316)
- Navoda Atapattu (ORCID: https://orcid.org/0000-0002-3398-2536)
- Sumudu Nimali Seneviratne
- Hedi L. Claahsen‐van der Grinten (ORCID: https://orcid.org/0000-0003-0181-0403)
- Vandana Jain
- Gilvydas Verkauskas (ORCID: https://orcid.org/0000-0001-7152-0802)
- Jillian Bryce
- Kenneth MсElreavey
- Isabel Viola Frielitz-Wagner
- Martine Cools (ORCID: https://orcid.org/0000-0002-9552-4899)
- Gianni Russo
- Paul Martin Holterhus
- Vilhelm Mladenov
Institutions
- Universidade Federal de Minas Gerais (BR)
- University of Messina (IT)
- Poznan University of Medical Sciences (PL)
- HOGENT University of Applied Sciences and Arts (BE)
- Centre National de la Recherche Scientifique (FR)
- Radboud University Nijmegen (NL)
- Medical University of Varna (BG)
- Consejo Nacional de Investigaciones Científicas y Técnicas (AR)
- Vita-Salute San Raffaele University (IT)
- Institut Pasteur (FR)
- Carol Davila University of Medicine and Pharmacy (RO)
- Queen Mary University of London (GB)
- Vilnius University (LT)
- Universidade de São Paulo (BR)
- Universidade Estadual de Campinas (UNICAMP) (BR)
- Universität Ulm (DE)
- Université Paris Cité (FR)
- Heidelberg University (DE)
- University of Cambridge (GB)
- Lady Ridgeway Hospital for Children (LK)
- Ghent University Hospital (BE)
- Princess Anne Hospital (GB)
- Erasmus MC (NL)
- University Hospital Heidelberg (DE)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- University Medical Center (US)
- Radboud University Medical Center (NL)
- University Hospital Southampton NHS Foundation Trust (GB)
- Ghent University (BE)
- Centre National pour la Recherche Scientifique et Technique (CNRST) (MA)
- Uniwersytecki Szpital Dziecięcy (PL)
- Bridge University (SS)
- University Hospital St. Marina (BG)
- Birmingham Children's Hospital (GB)
- University Hospital Schleswig-Holstein (DE)
- Amalia Kinderziekenhuis (NL)
- Azienda USL di Bologna (IT)
- Grupo Santa Casa de Belo Horizonte (BR)
- Başkent University Hospital (TR)
- University Children's Hospital Zurich (CH)
- Diabetesinstitut Heidelberg (DE)
- Erasmus MC - Sophia Children’s Hospital (NL)
- GGD Amsterdam (NL)
- Amsterdam University Medical Centers (NL)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University Hospital Ulm (DE)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- Addenbrooke's Hospital (GB)
- Royal Manchester Children's Hospital (GB)
- Center for Human Reproduction (US)
- Hospital General de Niños Ricardo Gutierrez (AR)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
- Yerevan State Medical University (AM)
- All India Institute of Medical Sciences (IN)
- Istanbul University (TR)
- Marmara University (TR)
- University of Glasgow (GB)
- Vrije Universiteit Amsterdam (NL)
- University of Amsterdam (NL)
- University of Colombo (LK)
- University of Lübeck (DE)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-04-08
- DOI
- https://doi.org/10.1210/clinem/dgaf223
- Citations
- 3
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- National Institute for Health and Care Research
- University of Cambridge
- European Commission
- Medical Research Council