التفاصيل البيبلوغرافية
| العنوان: |
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France |
| المؤلفون: |
Bonnet, E. (Estelle), Winter, M. (Mathias), Mallet, D. (Delphine), Plotton, I. (Ingrid), Bouvattier, C. (Claire), Cartigny, M. (Maryse), Martinerie, L. (Laetiti), Polak, M. (Michel), Bachelot, A. (Anne), Huet, F. (Frédéric), Baron, S. (Sabine), Houang, M. (Muriel), Soskin, S. (Sylvie), Lienhardt, A. (Anne), Bertherat, J. (Jérôme), Amouroux, C. (Cyril), Bouty, A. (Aurore), Duranteau, L. (Lise), Besson, R. (Rémi), El Ghoneimi, A. (Alaa), Samara-Boustani, D. (Dinane), Becmeur, F. (François), Kalfa, N. (Nicolas), Paris, F. (Françoise), Medjkane, F. (François), Brac de la Perrière, A. (Aude), Bretones, P. (Patricia), Lejeune, H. (Hervé), Nicolino, M. (Marc), Mouriquand, P. (Pierre), Gorduza, D. (Daniela-Brindusa), Gay, C. (Claire-Lise) |
| سنة النشر: |
2023 |
| مصطلحات موضوعية: |
Aucun |
| الوصف: |
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 retrieved from the medical records of 52 patients with a molecular diagnosis of SRD5A2 (n = 31) or HSD17B3 (n = 21) deficiency. Temporal trends regarding age at assessment and initial sex assignment over 1994-2020 were qualitatively analyzed. Age at molecular diagnosis was compared between two subgroups of patients according to their year of birth. Results: Fifty-eight percent (n = 30) patients were diagnosed during the perinatal period, 33% (n = 17) during infancy, and 9% (n = 5) during adolescence or adulthood. Over the studied period, the patients' age at initial assessment and diagnosis frankly decreased. The median (range) age at diagnostic confirmation was 10.5 (0-53.2) years for patients born before 2007 and 0.4 (0-9.3) years for those born in 2007 or later (P = 0.029). Genetic testing identified 27 different variants for the SRD5A2 gene (30% novel, n = 8) and 18 for the HSD17B3 gene (44% novel, n = 8). Before 2002, most patients were initially assigned as females (95%, n = 19), but this proportion dropped for those born later (44%, n = 14; P < 0.001). The influence of initial genital appearance on these decisions seemingly decreased in the most recent years. Therapeutic interventions differed according to the sex of rearing. Ten percent (n = 2) patients requested female-to-male reassignment during adulthood. Conclusion: This study showed, over the past two decades, a clear trend toward earlier diagnosis and assignment of affected newborns as males. Keywords: 17β-hydroxysteroid dehydrogenase type 3 deficiency; 46,XY disorders of sex development; 5α-reductase type 2 deficiency; change in practices; sex assignment. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| الإتاحة: |
https://ec.bioscientifica.com/view/journals/ec/12/3/EC-22-0227.xmlTest |
| حقوق: |
Paternité - Pas d'utilisation commerciale - Pas de modification [CC] [BY] [NC] [ND] ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.D05B0A0 |
| قاعدة البيانات: |
BASE |
