title: MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
abstract: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess, while avoiding the adverse effects of exogenous glucocorticoid. Over the last 5 years, cohorts of adults with CAH due to 21-hydroxylase deficiency from Europe and the United States have been described, allowing us to have a better knowledge of long-term complications of the disease and its treatment. Patients with CAH have increased mortality, morbidity and risk for infertility and metabolic disorders. These comorbidities are due in part to the drawbacks of the currently available glucocorticoid therapy. Consequently, novel therapies are being developed and studied in an attempt to improve patient outcomes. New management strategies in the care of pregnancies at risk for congenital adrenal hyperplasia using fetal sex determination and dexamethasone have also been described, but remain a subject of debate. We focused the present overview on the data published in the last 5 years, concentrating on studies dealing with cardiovascular risk, fertility, treatment and prenatal management in adults with classic CAH to provide the reader with an updated review on this rapidly evolving field of knowledge.
authors.affiliation: AP-HPIE3M, Hôpital Pitié-Salpêtrière, Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, ICAN, Paris, France.|UPMC Université Pierre et Marie CurieUniv Paris 06, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Bachelot
authors.affiliation: AP-HPIE3M, Hôpital Pitié-Salpêtrière, Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, ICAN, Paris, France.|UPMC Université Pierre et Marie CurieUniv Paris 06, Paris, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Grouthier
authors.affiliation: AP-HPIE3M, Hôpital Pitié-Salpêtrière, Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, ICAN, Paris, France.
authors.forename: Carine
authors.initials: C
authors.lastname: Courtillot
authors.affiliation: AP-HPIE3M, Hôpital Pitié-Salpêtrière, Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, ICAN, Paris, France.
authors.forename: Jérôme
authors.initials: J
authors.lastname: Dulon
authors.affiliation: AP-HPIE3M, Hôpital Pitié-Salpêtrière, Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, ICAN, Paris, France.|UPMC Université Pierre et Marie CurieUniv Paris 06, Paris, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy*; D003907:Dexamethasone / Q000627:therapeutic use*; D019468:Disease Management; D005938:Glucocorticoids / Q000627:therapeutic use*; D020249:Hormone Replacement Therapy / Q000379:methods*; D006801:Humans; D012307:Risk Factors
chemical_list: D005938:Glucocorticoids; D003907:Dexamethasone