Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France

Objectives: To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available. Methods: Clinical, laboratory, and therapeutic data were retri...

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Main Authors: Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay
Format: Article
Language:English
Published: Bioscientifica 2023-02-01
Series:Endocrine Connections
Subjects:
5α-reductase type 2 deficiency
17β-hydroxysteroid dehydrogenase type 3 deficiency
46
xy disorders of sex development
sex assignment
change in practices
Online Access:https://ec.bioscientifica.com/view/journals/ec/12/3/EC-22-0227.xml

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