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Phenotypic variation and pubertal outcomes in males and females with 46,XY partial gonadal dysgenesis

46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome is not clearly defined.To evaluate clinical features and pubertal outcome of PGD in a large cohort, using CGD as a comparator for diagnostic clarity.Patients with 46,XY...

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Hauptverfasser: Tadokoro-Cuccaro, Rieko (VerfasserIn) , Hughes, Ieuan A (VerfasserIn) , Cools, Martine (VerfasserIn) , van de Vijver, Koen (VerfasserIn) , Bilharinho de Mendonça, Berenice (VerfasserIn) , Domenice, Sorahia (VerfasserIn) , Loch Batista, Rafael (VerfasserIn) , Thomazini Dallago, Renata (VerfasserIn) , Costa, Elaine F (VerfasserIn) , Lisboa Gomes, Nathalia (VerfasserIn) , Maciel-Guerra, Andréa T (VerfasserIn) , Guerra-Junior, Gil (VerfasserIn) , Gabriel Ribeiro de Andrade, Juliana (VerfasserIn) , Lucas-Herald, Angela (VerfasserIn) , Bryce, Jillian (VerfasserIn) , Hannema, Sabine (VerfasserIn) , Juul, Anders (VerfasserIn) , Globa, Evgenia (VerfasserIn) , McElreavey, Ken (VerfasserIn) , Baronio, Federico (VerfasserIn) , Rey, Rodolfo (VerfasserIn) , Lopez Dacal, Jimena (VerfasserIn) , Darendeliler, Feyza (VerfasserIn) , Poyrazoglu, Sukran (VerfasserIn) , Kolesińska, Zofia (VerfasserIn) , Niedziela, Marek (VerfasserIn) , Claahsen-van der Grinten, Hedi L (VerfasserIn) , van den Akker, Erica L T (VerfasserIn) , Herrmann, Gloria (VerfasserIn) , Atapattu, Navoda (VerfasserIn) , Jain, Vandana (VerfasserIn) , Sharma, Rajni (VerfasserIn) , Bettendorf, Markus (VerfasserIn) , Konrad, Daniel (VerfasserIn) , Lenherr-Taube, Nina (VerfasserIn) , Holterhus, Paul Martin (VerfasserIn) , Fica, Simona (VerfasserIn) , Skae, Mars (VerfasserIn) , Russo, Gianni (VerfasserIn) , Stancampiano, Marianna Rita (VerfasserIn) , Gazdagh, Gabriella (VerfasserIn) , Davies, Justin H (VerfasserIn) , Mohamed, Zainaba (VerfasserIn) , Seneviratne, Sumudu Nimali (VerfasserIn) , Güran, Tülay (VerfasserIn) , Güven, Ayla (VerfasserIn) , Wasniewska, Malgorzata (VerfasserIn) , Mladenov, Vilhelm (VerfasserIn) , Verkauskas, Gilvydas (VerfasserIn) , Markosyan, Renata (VerfasserIn) , Korbonits, Marta (VerfasserIn) , Hiort, Olaf (VerfasserIn) , Frielitz-Wagner, Isabel Viola (VerfasserIn) , Ahmed, S Faisal (VerfasserIn) , Thankamony, Ajay (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 10 April 2025
In: The journal of clinical endocrinology & metabolism
Year: 2025, Pages: 1-15
ISSN:1945-7197
DOI:10.1210/clinem/dgaf223
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1210/clinem/dgaf223
Verlag, kostenfrei, Volltext: https://academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgaf223/8110153
Volltext
Verfasserangaben:Rieko Tadokoro-Cuccaro, Ieuan A Hughes, Martine Cools, Koen van de Vijver, Berenice Bilharinho de Mendonça, Sorahia Domenice, Rafael Loch Batista, Renata Thomazini Dallago, Elaine F Costa, Nathalia Lisboa Gomes, Andréa T Maciel-Guerra, Gil Guerra-Junior, Juliana Gabriel Ribeiro de Andrade, Angela Lucas-Herald, Jillian Bryce, Sabine Hannema, Anders Juul, Evgenia Globa, Ken McElreavey, Federico Baronio, Rodolfo Rey, Jimena Lopez Dacal, Feyza Darendeliler, Sukran Poyrazoglu, Zofia Kolesińska, Marek Niedziela, Hedi L Claahsen-van der Grinten, Erica L T van den Akker, Gloria Herrmann, Navoda Atapattu, Vandana Jain, Rajni Sharma, Markus Bettendorf, Daniel Konrad, Nina Lenherr-Taube, Paul Martin Holterhus, Simona Fica, Mars Skae, Gianni Russo, Marianna Rita Stancampiano, Gabriella Gazdagh, Justin H Davies, Zainaba Mohamed, Sumudu Nimali Seneviratne, Tülay Güran, Ayla Güven, Malgorzata Wasniewska, Vilhelm Mladenov, Gilvydas Verkauskas, Renata Markosyan, Marta Korbonits, Olaf Hiort, Isabel Viola Frielitz-Wagner, S Faisal Ahmed, Ajay Thankamony
Beschreibung
Zusammenfassung:46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome is not clearly defined.To evaluate clinical features and pubertal outcome of PGD in a large cohort, using CGD as a comparator for diagnostic clarity.Patients with 46,XY GD were identified from the I-DSD Registry and data on phenotype, genetics, biochemistry, gonadal histology, and pubertal development were collated in 3 categories; CGD (n = 100), PGD assigned female (PGDf, n = 107), and male (PGDm, n = 103) at birth.Most individuals with PGD presented with atypical genitalia in infancy, though, 18% of PGDf presented with delayed puberty and 8% with virilization. A genetic etiology was identified in 42% of the cohort, with common gene defects in SRY and WT1 in CGD and NR5A1 in PGD. Gonadal pre-/malignancy was found in 33.8% in CGD, 19.7% in PGDf, and 8.8% in PGDm. Among the PGDm (>13 years) with at least 1 gonad, 80% had spontaneous pubertal onset and 59% achieved Tanner G5 without hormone treatment. Labioscrotal gonads at presentation and testosterone response to human chorionic gonadotropin predicted onset of spontaneous puberty. In PGDf with gonads, 42% developed spontaneous virilization at puberty. Sex was reassigned in 16.1% and 5.3% of individuals with PGDf and PGDm, respectively.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.
Beschreibung:Gesehen am 03.11.2025
Beschreibung:Online Resource
ISSN:1945-7197
DOI:10.1210/clinem/dgaf223

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