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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2023-02-01
|
| Series: | Endocrine Connections |
| Subjects: | |
| Online Access: | https://ec.bioscientifica.com/view/journals/ec/12/3/EC-22-0227.xml |
| _version_ | 1797903847063027712 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Estelle Bonnet |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T09:39:19Z |
| format | Article |
| id | doaj.art-077e01f7ec9b4ad58a9537aefd1f10ce |
| institution | Directory Open Access Journal |
| issn | 2049-3614 |
| language | English |
| last_indexed | 2024-04-10T09:39:19Z |
| publishDate | 2023-02-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Connections |
| spelling | doaj.art-077e01f7ec9b4ad58a9537aefd1f10ce2023-02-17T12:26:39ZengBioscientificaEndocrine Connections2049-36142023-02-01123116https://doi.org/10.1530/EC-22-0227Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in FranceEstelle Bonnet0Mathias Winter1Delphine Mallet2Ingrid Plotton3Claire Bouvattier4Maryse Cartigny5Laetiti Martinerie6Michel Polak7Anne Bachelot8Frédéric Huet9Sabine Baron10Muriel Houang11Sylvie Soskin12Anne Lienhardt13Jérôme Bertherat14Cyril Amouroux15Aurore Bouty16Lise Duranteau17Rémi Besson18Alaa El Ghoneimi19Dinane Samara-Boustani20François Becmeur21Nicolas Kalfa22Françoise Paris23François Medjkane24Aude Brac de la Perrière25Patricia Bretones26Hervé Lejeune27Marc Nicolino28Pierre Mouriquand29Daniela-Brindusa Gorduza30Claire-Lise Gay31Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, FranceCentre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France; Centre national de la recherche scientifique UMR 5317, Ecole Normale Supérieure de Lyon, Institut d’Histoire des Représentations et des Idées dans les Modernités, Lyon, France Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, FranceCentre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France Centre Hospitalier Universitaire AP-HP, Hôpital Bicêtre, Service d’endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, FranceCentre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Unité d’Endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Lille, FranceCentre Hospitalier Universitaire AP-HP, Hôpital Robert Debré, Service d’Endocrinologie pédiatrique Centre de Référence des Maladies Rares Endocriniennes de la Croissance et du Développement – CRMERC Université de Paris, Paris, FranceCentre Hospitalier Universitaire AP-HP, Hôpital universitaire Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement Inserm U1016, institut Imagine, Paris, FranceCentre Hospitalier Universitaire AP-HP, Hôpital Pitié Salpêtrière, Department of Endocrinology and Reproductive Medicine Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement Centre de Référence des pathologies gynécologiques rares IE3M, Paris, FranceCentre Hospitalier Universitaire Dijon-Bourgogne, Hôpital d’Enfants, Service de Pédiatrie Multidisciplinaire, Dijon, FranceCentre Hospitalier universitaire de Nantes, Hôpital Mère-Enfant, Service de Pédiatrie, Nantes, FranceCentre Hospitalier Universitaire AP-HP, Hôpital Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, Paris, FranceHôpitaux Universitaires de Strasbourg, CHU Hautepierre, Service de Pédiatrie 1, Strasbourg, FranceCentre hospitalier universitaire Limoges, Hôpital de la Mère et de l’enfant, Service de Pédiatrie, Limoges, FranceGroupement Hospitalier Universitaire de Paris, AP-HP, Hôpital Cochin, Service d'Endocrinologie, Paris, FranceCentre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Montpellier, FranceCentre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France AP-HP, Hôpital Bicêtre, Unité de gynécologie de l’adolescente Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, FranceCentre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de chirurgie pédiatrique Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Lille, FranceCentre Hospitalier Universitaire AP-HP Robert Debré, Service de Chirurgie Viscérale et Urologie pédiatrique Centre de Référence des Maladies Endocriniennes de la croissance et du développement – CRMERC Université de Paris, Paris, FranceCentre Hospitalier Universitaire AP-HP, Hôpital Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement, Paris, FranceHospitaux Universitaires de Strasbourg, CHU Hautepierre, Service de chirurgie pédiatrique, Strasbourg, FranceCentre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Chirurgie Viscérale et Urologie Pédiatrique Centre National de Référence Maladies Rares du Développement Génital Constitutif Sud Institut Debrest de Santé Publique IDESP, UMR INSERM, Université de Montpellier, Montpellier, FranceCentre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Montpellier, FranceCentre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de psychiatrie de l’enfant et de l’adolescent Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Lille, FranceCentre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France; Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de médecine de la reproduction, Bron, France; Université Claude Bernard, Lyon, France Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France; Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Université Claude Bernard, Lyon, France Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France; Université Claude Bernard, Lyon, France Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France; Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France; Centre National de Référence Maladies Rares du développement génital du foetus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, 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 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.https://ec.bioscientifica.com/view/journals/ec/12/3/EC-22-0227.xml5α-reductase type 2 deficiency17β-hydroxysteroid dehydrogenase type 3 deficiency46xy disorders of sex developmentsex assignmentchange in practices |
| spellingShingle | 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 Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France Endocrine Connections 5α-reductase type 2 deficiency 17β-hydroxysteroid dehydrogenase type 3 deficiency 46 xy disorders of sex development sex assignment change in practices |
| title | Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France |
| title_full | Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France |
| title_fullStr | Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France |
| title_full_unstemmed | Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France |
| title_short | Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France |
| title_sort | changes in the clinical management of 5α reductase type 2 and 17β hydroxysteroid dehydrogenase type 3 deficiencies in france |
| topic | 5α-reductase type 2 deficiency 17β-hydroxysteroid dehydrogenase type 3 deficiency 46 xy disorders of sex development sex assignment change in practices |
| url | https://ec.bioscientifica.com/view/journals/ec/12/3/EC-22-0227.xml |
| work_keys_str_mv | AT estellebonnet changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT mathiaswinter changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT delphinemallet changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT ingridplotton changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT clairebouvattier changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT marysecartigny changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT laetitimartinerie changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT michelpolak changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT annebachelot changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT frederichuet changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT sabinebaron changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT murielhouang changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT sylviesoskin changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT annelienhardt changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT jeromebertherat changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT cyrilamouroux changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT aurorebouty changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT liseduranteau changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT remibesson changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT alaaelghoneimi changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT dinanesamaraboustani changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT francoisbecmeur changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT nicolaskalfa changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT francoiseparis changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT francoismedjkane changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT audebracdelaperriere changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT patriciabretones changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT hervelejeune changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT marcnicolino changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT pierremouriquand changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT danielabrindusagorduza changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance AT clairelisegay changesintheclinicalmanagementof5areductasetype2and17bhydroxysteroiddehydrogenasetype3deficienciesinfrance |