Anne Bachelot1, Jean Louis Golmard1, Jérôme Dulon2, Nora Dahmoune2, Monique Leban2, Claire Bouvattier1, Sylvie Cabrol1, Juliane Leger1, Michel Polak1, Philippe Touraine3. 1. Department of Endocrinology and Reproductive MedicineCentre de Référence des Maladies Endocriniennes Rares de la Croissance, AP-HP, IE3M, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FranceUPMC Univ Paris 06Paris, FranceClinical Research UnitAP-HP, Hôpital Pitié-Salpêtrière, Paris, FranceDepartment of Hormonal BiochemistryAP-HP, Hôpital Pitié-Salpêtrière, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFaculté de Médecine Paris-SudUniversité Paris-Sud 11, Le Kremlin-Bicêtre F-94276, FrancePediatric EndocrinologyAP-HP, Hôpital Trousseau, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Robert Debré, Paris, FranceUniversité Paris Diderot Paris 07Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Necker Enfants-Malades, Paris, FranceUniversité Paris Descartes Paris 05Paris, France Department of Endocrinology and Reproductive MedicineCentre de Référence des Maladies Endocriniennes Rares de la Croissance, AP-HP, IE3M, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FranceUPMC Univ Paris 06Paris, FranceClinical Research UnitAP-HP, Hôpital Pitié-Salpêtrière, Paris, FranceDepartment of Hormonal BiochemistryAP-HP, Hôpital Pitié-Salpêtrière, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFaculté de Médecine Paris-SudUniversité Paris-Sud 11, Le Kremlin-Bicêtre F-94276, FrancePediatric EndocrinologyAP-HP, Hôpital Trousseau, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Robert Debré, Paris, FranceUniversité Paris Diderot Paris 07Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Necker Enfants-Malades, Paris, FranceUniversité Paris Descartes Paris 05Paris, France. 2. Department of Endocrinology and Reproductive MedicineCentre de Référence des Maladies Endocriniennes Rares de la Croissance, AP-HP, IE3M, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FranceUPMC Univ Paris 06Paris, FranceClinical Research UnitAP-HP, Hôpital Pitié-Salpêtrière, Paris, FranceDepartment of Hormonal BiochemistryAP-HP, Hôpital Pitié-Salpêtrière, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFaculté de Médecine Paris-SudUniversité Paris-Sud 11, Le Kremlin-Bicêtre F-94276, FrancePediatric EndocrinologyAP-HP, Hôpital Trousseau, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Robert Debré, Paris, FranceUniversité Paris Diderot Paris 07Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Necker Enfants-Malades, Paris, FranceUniversité Paris Descartes Paris 05Paris, France. 3. Department of Endocrinology and Reproductive MedicineCentre de Référence des Maladies Endocriniennes Rares de la Croissance, AP-HP, IE3M, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FranceUPMC Univ Paris 06Paris, FranceClinical Research UnitAP-HP, Hôpital Pitié-Salpêtrière, Paris, FranceDepartment of Hormonal BiochemistryAP-HP, Hôpital Pitié-Salpêtrière, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFaculté de Médecine Paris-SudUniversité Paris-Sud 11, Le Kremlin-Bicêtre F-94276, FrancePediatric EndocrinologyAP-HP, Hôpital Trousseau, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Robert Debré, Paris, FranceUniversité Paris Diderot Paris 07Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Necker Enfants-Malades, Paris, FranceUniversité Paris Descartes Paris 05Paris, France Department of Endocrinology and Reproductive MedicineCentre de Référence des Maladies Endocriniennes Rares de la Croissance, AP-HP, IE3M, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FranceUPMC Univ Paris 06Paris, FranceClinical Research UnitAP-HP, Hôpital Pitié-Salpêtrière, Paris, FranceDepartment of Hormonal BiochemistryAP-HP, Hôpital Pitié-Salpêtrière, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFaculté de Médecine Paris-SudUniversité Paris-Sud 11, Le Kremlin-Bicêtre F-94276, FrancePediatric EndocrinologyAP-HP, Hôpital Trousseau, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Robert Debré, Paris, FranceUniversité Paris Diderot Paris 07Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Necker Enfants-Malades, Paris, FranceUniversité Paris Descartes Paris 05Paris, France philippe.touraine@psl.aphp.fr.
Abstract
AIM: Adverse outcomes in adult congenital adrenal hyperplasia (CAH) patients are frequent. The determinants of them have not yet been established. OBJECTIVE: To establish the prevalence of adverse outcomes and to find determining factors for each of them. DESIGN, PATIENTS, AND METHODS: Cross-sectional monocentric study of 104 patients with childhood onset of CAH (71 women, 33 men). Analysis established first the determinants of clinical, hormonal, genetic variables and second a composite criterion for some of the outcomes and determinants. RESULTS: BMI was above 25 kg/m(2) in 44% of the cohort, adrenal hyperplasia and/or nodules were present in 45% of the patients, and irregular menstrual cycles and hyperandrogenism were found in 50 and 35% of the women respectively. In univariate analysis, the determinants of these outcomes were all linked to disease control, especially 17-hydroxyprogesterone (17OHP) and androstenedione concentrations. Low weight was a determinant of abnormal bone mineral density (BMD) (60% of the cohort). Multivariate analysis confirmed these data. A classic form (CF) of CAH was a determinant of testicular adrenal rest tumors (TARTs) (36% of the men). Total cumulative glucocorticoid dose was a determinant of BMI and TART, whereas fludrocortisone dose was a determinant of TART (P=0.03). In men, the composite criterion was associated with androstenedione concentration and CF. In women, the composite criterion was associated with total testosterone concentration. CONCLUSION: The present study confirms the high prevalence of adverse outcomes in CAH patients. These are, most often, related to disease control. The impaired health status of adults with CAH could therefore be improved through the modification of treatment.
AIM: Adverse outcomes in adult congenital adrenal hyperplasia (CAH) patients are frequent. The determinants of them have not yet been established. OBJECTIVE: To establish the prevalence of adverse outcomes and to find determining factors for each of them. DESIGN, PATIENTS, AND METHODS: Cross-sectional monocentric study of 104 patients with childhood onset of CAH (71 women, 33 men). Analysis established first the determinants of clinical, hormonal, genetic variables and second a composite criterion for some of the outcomes and determinants. RESULTS: BMI was above 25 kg/m(2) in 44% of the cohort, adrenal hyperplasia and/or nodules were present in 45% of the patients, and irregular menstrual cycles and hyperandrogenism were found in 50 and 35% of the women respectively. In univariate analysis, the determinants of these outcomes were all linked to disease control, especially 17-hydroxyprogesterone (17OHP) and androstenedione concentrations. Low weight was a determinant of abnormal bone mineral density (BMD) (60% of the cohort). Multivariate analysis confirmed these data. A classic form (CF) of CAH was a determinant of testicular adrenal rest tumors (TARTs) (36% of the men). Total cumulative glucocorticoid dose was a determinant of BMI and TART, whereas fludrocortisone dose was a determinant of TART (P=0.03). In men, the composite criterion was associated with androstenedione concentration and CF. In women, the composite criterion was associated with total testosterone concentration. CONCLUSION: The present study confirms the high prevalence of adverse outcomes in CAH patients. These are, most often, related to disease control. The impaired health status of adults with CAH could therefore be improved through the modification of treatment.
Authors: L L Iervolino; B Ferraz-de-Souza; R M Martin; F C Costa; M C Miranda; B B Mendonça; T S Bachega Journal: Osteoporos Int Date: 2020-01-02 Impact factor: 4.507
Authors: Hedi L Claahsen-van der Grinten; Phyllis W Speiser; S Faisal Ahmed; Wiebke Arlt; Richard J Auchus; Henrik Falhammar; Christa E Flück; Leonardo Guasti; Angela Huebner; Barbara B M Kortmann; Nils Krone; Deborah P Merke; Walter L Miller; Anna Nordenström; Nicole Reisch; David E Sandberg; Nike M M L Stikkelbroeck; Philippe Touraine; Agustini Utari; Stefan A Wudy; Perrin C White Journal: Endocr Rev Date: 2022-01-12 Impact factor: 19.871
Authors: Seung Gyun Lim; Young Ah Lee; Han Na Jang; Sung Hye Kong; Chang Ho Ahn; Sang Wan Kim; Choong Ho Shin; Jung Hee Kim Journal: Front Endocrinol (Lausanne) Date: 2021-10-12 Impact factor: 5.555
Authors: Carlos E Seraphim; Juliana S Frassei; Bruna S Pessoa; Renata C Scalco; Mirela C Miranda; Guiomar Madureira; Berenice B Mendonca; Tania A S S Bachega Journal: J Endocr Soc Date: 2019-06-19