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.

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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

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article

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis

Mars Skae, Şükran Poyrazoğlu, Małgorzata Waśniewska, Zofia Kolesińska et al.
3 citations
The Journal of Clinical Endocrinology & Metabolism
Sexual Differentiation and Disorders
2.42
article

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis

Mars Skae, Şükran Poyrazoğlu, Małgorzata Waśniewska, Zofia Kolesińska, Ieuan A. Hughes, Evgenia Globa, Berenice B. Mendonça, Justin H. Davies, Ajay Thankamony, Koen Van de Vijver, Márta Korbonits, Olaf Hiort, Elaine de Paula Fiod Costa, Tülay Güran, Andréa Trevas Maciel‐Guerra, Sorahia Domenice, Jimena Lopez Dacal, Sabine E Hannema, Gabriella Gazdagh, Nathália Lisboa Gomes, Angela Lucas-Herald, Rieko Tadokoro‐Cuccaro, Simona Fica, Renata Thomazini Dallago, Anders Juul, S. Faisal Ahmed, Federico Baronio, Zainaba Mohamed, Erica L T van den Akker, Marianna Rita Stancampiano, Daniel Konrad, Ayla Güven, Gloria Herrmann, Rajni Sharma, Juliana Gabriel Ribeiro de Andrade, Nina Lenherr‐Taube, Renata Markosyan, Rafael Loch Batista, Feyza Darendelıler, Gil Guerra‐Júnior, Rodolfo Alberto Rey, Marek Niedziela, Markus Bettendorf, Navoda Atapattu, Sumudu Nimali Seneviratne, Hedi L. Claahsen‐van der Grinten, Vandana Jain, Gilvydas Verkauskas, Jillian Bryce, Kenneth MсElreavey, Isabel Viola Frielitz-Wagner, Martine Cools, Gianni Russo, Paul Martin Holterhus, Vilhelm Mladenov
article en
3 citations

Abstract

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.

The Journal of Clinical Endocrinology & MetabolismVol. 110(12)
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)
National Institute for Health and Care Research, University of Cambridge, European Commission, Medical Research Council
Good health and well-being
Openalex Percentile: Top 12%
Sexual Differentiation and Disorders
2.42
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