{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:03Z","timestamp":1791828543672,"version":"4.3.4"},"reference-count":41,"publisher":"The Endocrine Society","issue":"4","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Measuring health-related quality of life (HRQoL) is a crucial aspect of evaluating health care outcomes. Patients with congenital adrenal hyperplasia (CAH) often self-report deficiencies in HRQoL.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>The aim of our study was to develop a disease-specific patient-reported outcome (PRO) instrument to evaluate the HRQoL of patients &amp;gt;\u202f16 years old with classic CAH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Following the FDA guidelines for developing PRO instruments, we developed a conceptual framework for the instrument. A preliminary instrument was created after interviewing a representative sample of 12 patients (aged 16 to 68 years) with CAH and 3 parents and obtaining expert feedback from 4 endocrinologists. The instrument was edited after cognitive interviews with 6 patients. Internal consistency of the instrument was evaluated using Cronbach's alpha. Validity was assessed by comparing the scores of our instrument with scores from widely used validated instruments for HRQoL and PRO not specific to CAH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Sixty-nine patients 16 to 75 years old participated in validating our preliminary instrument. The final questionnaire consists of 44 questions within 7 domains: General Health, Adrenal Insufficiency, Glucocorticoid Excess, Physical Functioning, Mental Health and Cognition, Social Functioning, and Sexual Functioning, with acceptable internal consistency (Chronbach's alpha \u2265 .6) and validity (r = \u22120.350 to 0.866).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>CAHQL is the first validated PRO instrument to capture disease-specific HRQoL outcomes in CAH. In addition to its anticipated use in the clinical setting, the instrument could be used to assess the efficacy of novel treatments in development.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae309","type":"journal-article","created":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T07:18:55Z","timestamp":1714979935000},"page":"e1149-e1159","source":"Crossref","is-referenced-by-count":6,"title":["CAHQL: A Patient-Reported Outcome Instrument to Assess Health-Related Quality of Life in Congenital Adrenal Hyperplasia"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4256-0914","authenticated-orcid":false,"given":"Myrto Eleni","family":"Flokas","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Diabetes, Children's National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"The Eunice Kennedy Shriver National Institute of Child Health and Human Development , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Institutes of Health Clinical Center , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly R","family":"Middleton","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Institutes of Health Clinical Center , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Kollender","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Institutes of Health Clinical Center , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Parker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Institutes of Health Clinical Center , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Sukin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Institutes of Health Clinical Center , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca Wood","family":"Persky","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes, Children's National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"The Eunice Kennedy Shriver National Institute of Child Health and Human Development , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3746-0460","authenticated-orcid":false,"given":"Deborah P","family":"Merke","sequence":"additional","affiliation":[{"name":"The Eunice Kennedy Shriver National Institute of Child Health and Human Development , Bethesda, MD 20892-1932 ,","place":["USA"]},{"name":"Department of Pediatrics, National Institutes of Health Clinical Center , Bethesda, MD 20892-1932 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,5,6]]},"reference":[{"key":"2025062416174972900_dgae309-B1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/1477-7525-1-60","article-title":"The Quality of Life Scale (QOLS): reliability, validity, and utilization","volume":"1","author":"Burckhardt","year":"2003","journal-title":"Health Qual Life Outcomes"},{"issue":"5","key":"2025062416174972900_dgae309-B2","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1530\/EJE-07-0762","article-title":"Evaluation of health-related quality of life in patients with Cushing's syndrome with a new questionnaire","volume":"158","author":"Webb","year":"2008","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"2025062416174972900_dgae309-B3","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/j.1365-2265.2011.04280.x","article-title":"The development of the Tuebingen Cushing's disease quality of life inventory (Tuebingen CD-25). 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