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      Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood


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          Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life.


          Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the QoL (WHOQOL-BREF).


          Seventy-three patients were included in the study, among them 59/73 were transferred to adult endocrinologist by their pediatricians for transition. WHOQOL-BREF scores were similar between patients with or without transition to specialist adult services, except for environment dimension score, which was slightly higher in CAH patients without transition. However, CAH patients with a regular follow-up had a better physical health, psychological health and environment score and item global QoL than the group without regular follow-up after transition.


          Regular medical follow-up in adulthood is associated with the transition between pediatric and adult care and is associated with better QoL in adults with CAH.

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          Most cited references19

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          Transition from child-centered to adult health-care systems for adolescents with chronic conditions. A position paper of the Society for Adolescent Medicine.

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            Congenital adrenal hyperplasia.

            Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.
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              Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia.

              In congenital adrenal hyperplasia (CAH) caused by different mutations, feminizing surgery is mostly performed in childhood, and many patients are lost to follow-up. A follow-up study on 62 CAH women aged 18-63 yr and 62 age-matched controls to correlate findings of both operative method and mutation was performed. Semistructured interviews were performed in cases and controls, as well as a gynecological examination in the cases. The results were correlated with disease-causing mutations and earlier surgical procedures if performed. The study was conducted at university hospital referral clinics. Gynecological examination in all cases correlated to previous surgery (n = 49), type of mutation, and questionnaire responses. Half of the CAH women claimed that the disease affected their sex life. The women were less satisfied with their genitals, whether operated or not. Clitoris size and functions were affected by the surgical method. Five women had a clinically evident vaginal stenosis on examination. However, almost half of patients experienced a narrow vagina. The overall psychosexual aspects of life were affected in these patients with later sexual debut, fewer pregnancies and children, and an increased incidence of homosexuality. These quality of life factors were correlated to the severity of the mutations. The overall quality of life in adult women with CAH is affected both by the type of mutation and operative procedure. Indications for clitoroplasty should be restrictive. Medical, surgical, and psychological treatment should be centralized.

                Author and article information

                Endocr Connect
                Endocr Connect
                Endocrine Connections
                Bioscientifica Ltd (Bristol )
                October 2017
                18 July 2017
                : 6
                : 7
                : 422-429
                [1 ]Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
                [2 ]UPMC Univ Paris, France
                [3 ]AP-HP Clinical Research Unit Paris Descartes Necker Cochin, Paris, France
                [4 ]Department of Pediatric Endocrinology Gynecology and Diabetology, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et Centre des pathologies gynécologiques Rares, Hôpital Universitaire Necker Enfants malades, Paris, France
                [5 ]Université Paris Descartes Paris, France
                Author notes
                Correspondence should be addressed to P Touraine; Email: philippe.touraine@ 123456aphp.fr

                (details of CRMERC study group is given in the Acknowledgements section)

                © 2017 The authors

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                : 12 July 2017
                : 18 July 2017

                congenital adrenal hyperplasia,quality of life,transition,health care,21oh deficiency,21-hydroxylase


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