title: Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.affiliation: 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.
authors.forename: Anne
authors.initials: A
authors.lastname: Bachelot
authors.affiliation: 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.
authors.forename: Jean Louis
authors.initials: JL
authors.lastname: Golmard
authors.affiliation: 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.
authors.forename: Jérôme
authors.initials: J
authors.lastname: Dulon
authors.affiliation: 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.
authors.forename: Nora
authors.initials: N
authors.lastname: Dahmoune
authors.affiliation: 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.
authors.forename: Monique
authors.initials: M
authors.lastname: Leban
authors.affiliation: 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.
authors.forename: Claire
authors.initials: C
authors.lastname: Bouvattier
authors.affiliation: 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.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Cabrol
authors.affiliation: 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.
authors.forename: Juliane
authors.initials: J
authors.lastname: Leger
authors.affiliation: 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.
authors.forename: Michel
authors.initials: M
authors.lastname: Polak
authors.affiliation: 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.
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000378:metabolism*; D000328:Adult; D015415:Biomarkers / Q000097:blood / Q000378:metabolism; D015992:Body Mass Index; D015519:Bone Density / Q000502:physiology*; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D005260:Female; D006304:Health Status; D006801:Humans; D008297:Male; D008875:Middle Aged; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D015415:Biomarkers