{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:13:12Z","timestamp":1787026392450,"version":"build-2736575974"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:00:00Z","timestamp":1773187200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002759","name":"CARES Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002759","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Understanding the quality of life (QoL) and factors associated with improved outcomes in individuals with classical congenital adrenal hyperplasia (CAH) can meaningfully inform clinical care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Adults and caregivers of children with classical CAH completed a cross-sectional mixed-methods survey distributed via the CARES (Congenital Adrenal Hyperplasia Research Education and Support) Foundation website. QoL was assessed using a CAH-specific QoL instrument adapted from the CAHQL. Domains included general health (GH), adrenal insufficiency (AI), glucocorticoid excess (GE), physical functioning (PF), mental health and cognition (MHC); adult surveys also included social functioning (SoF) and sexual functioning (SeF). Scores were transformed to a 0\u2013100 scale, with higher scores indicating better QoL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 362 surveys were analyzed (response rate 15.7%), including 151 (41%) completed by adults, and 211 (59%) completed by caregivers of children. Among adult respondents, 71.8% were female, 76% resided in the United States (US), 58.1% had private insurance and 18.7% received care from CARES Comprehensive Care Center (CCC)-affiliated providers. Among children, 50% were female, 73% lived in the US, 66% had private insurance and 22.3% received CARES CCC-affiliated care. Adults demonstrated mid-range mean QoL scores across domains with a total mean score of 58.1 (SD 17.7). Children had significantly higher median scores across all five domains (p&amp;lt;0.001, p&amp;lt;0.001, p&amp;lt;0.001, p=0.009, p&amp;lt;0.001). In adults, older age was associated with worse PF and SeF (both p&amp;lt;0.01). Female sex was associated with worse GE and SeF scores (both p&amp;lt;0.01). Public insurance was associated with worse QoL across most domains except for GE and PF (p= 0.01, p= 0.05, p= 0.03, p= 0.02, p= 0.02). In children, older age was associated with worse QoL across domains except PF (p&amp;lt;0.001 for all domains). CARES CCC affiliation was associated with significantly better AI and PF scores (p=0.03, p=0.02) in adults. Finally, long-acting steroid use was associated with worse GE scores (p= 0.03).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Adults with CAH experience poorer QoL compared to children. Older age, female sex and public insurance were associated with worse QoL, while CARES CCC affiliation and hydrocortisone use were associated with improved outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1795860","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T05:35:15Z","timestamp":1773207315000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Living with congenital adrenal hyperplasia: insights on quality of life"],"prefix":"10.3389","volume":"17","author":[{"given":"Athanasia","family":"Bouliari","sequence":"first","affiliation":[{"name":"New York-Presbyterian Hospital, Division of Pediatric Endocrinology","place":["Weill Cornell Medicine, New York, NY, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Fleming","sequence":"additional","affiliation":[{"name":"The University of Virginia, School of Nursing","place":["Charlottesville, VA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivora","family":"Hinton","sequence":"additional","affiliation":[{"name":"The University of Virginia, School of Nursing","place":["Charlottesville, VA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina","family":"Matos","sequence":"additional","affiliation":[{"name":"Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation","place":["Union, NJ, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamilia","family":"McCoy","sequence":"additional","affiliation":[{"name":"The University of Virginia, School of Nursing","place":["Charlottesville, VA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Holroyd","sequence":"additional","affiliation":[{"name":"Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation","place":["Union, NJ, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Lin-Su","sequence":"additional","affiliation":[{"name":"New York-Presbyterian Hospital, Division of Pediatric Endocrinology","place":["Weill Cornell Medicine, New York, NY, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(22)01330-7","article-title":"Congenital adrenal hyperplasia","volume":"401","author":"Auer","year":"2023","journal-title":"Lancet"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yapd.2024.02.006","article-title":"Current advances in the management of congenital adrenal hyperplasia","volume":"71","author":"Bouliari","year":"2024","journal-title":"Adv Pediatr"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgae728","article-title":"Life with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: challenges and burdens","volume":"110","author":"Witchel","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgae068","article-title":"Health-related quality of life in children and adolescents with congenital adrenal hyperplasia: A systematic review and meta-analysis","volume":"109","author":"Gunawardana","year":"2024","journal-title":"J Clin Endocrinol Metab"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-13-0128","article-title":"Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)","volume":"168","author":"Han","year":"2013","journal-title":"Eur J Endocrinol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0284","article-title":"Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway","volume":"163","author":"Nermoen","year":"2010","journal-title":"Eur J Endocrinol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3326","article-title":"Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden","volume":"99","author":"Strandqvist","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1159\/000435855","article-title":"Health-related quality of life in children with congenital adrenal hyperplasia","volume":"84","author":"Yau","year":"2015","journal-title":"Horm Res Paediatr"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgae309","article-title":"CAHQL: A patient-reported outcome instrument to assess health-related quality of life in congenital adrenal hyperplasia","volume":"110","author":"Flokas","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0917","article-title":"Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients","volume":"95","author":"Arlt","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"B11","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s12020-018-1723-0","article-title":"Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review","volume":"62","author":"Daae","year":"2018","journal-title":"Endocrine"},{"key":"B12","doi-asserted-by":"publisher","first-page":"37","DOI":"10.3390\/jcm11154506","article-title":"Body image and quality of life in women with congenital adrenal hyperplasia","volume":"11","author":"Tschaidse","year":"2022","journal-title":"J Clin Med"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-01133","article-title":"Associations between systemic and local corticosteroid use with metabolic syndrome and body mass index","volume":"102","author":"Savas","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2020.01.010","article-title":"Glucocorticoid sexual dimorphism in metabolism: dissecting the role of sex hormones","volume":"312020","author":"Jan Kroon","year":"2020","journal-title":"Trends Endocrinol Metab"},{"key":"B15","doi-asserted-by":"publisher","first-page":"4506","DOI":"10.3390\/ijns6020037","article-title":"Newborn screening protocols and positive predictive value for congenital adrenal hyperplasia vary across the United States","volume":"6","author":"Speiser","year":"2020","journal-title":"Int J Neonatal Screen"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1795860\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T05:35:16Z","timestamp":1773207316000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1795860\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,11]]},"references-count":15,"alternative-id":["10.3389\/fendo.2026.1795860"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2026.1795860","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,11]]},"article-number":"1795860"}}