{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T17:54:42Z","timestamp":1740160482109,"version":"3.37.3"},"reference-count":31,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0681_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Although new-born screening (NBS) for classical congenital adrenal hyperplasia (C-CAH) has been available for decades, it is not widely implemented. We assessed the usefulness of introducing NBS for C-CAH, by analyzing presenting status of infants with C-CAH, over the past two decades, in Sri Lanka.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0681_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This retrospective clinic-based study, from the largest tertiary children\u2019s hospital in Sri Lanka, analyzed initial presenting features of children with C-CAH from 1999 to 2018, in the absence of NBS for CAH, and included gender-based comparisons.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0681_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Features suggestive of impending adrenal-crisis were seen at initial presentation in &gt;80 % (dehydration 70%, hyponatremia 65%, hyperkalemia 47%, vomiting 45%, hypoglycemia 22%, collapse 20%). Hyperpigmentation was seen in 78%, and consanguinity in 27%. There were fewer affected males (n = 12) compared to females (n = 28). Most girls (96%) had virilized genitalia, and 16 faced uncertainty about gender at birth. Median age at diagnosis was 20\u00a0days. More than 70% of children had SW-CAH (males = 9 and females = 20). There were fewer males with SW-CAH, and all had features of impending adrenal crisis, including severe hyponatremia in 50%, while 62% of girls also developed hyponatremia and 33% had hyperkalemia, prior to treatment. Treatment of SW-CAH was initiated at a median age of 30\u00a0days in boys, and 10\u00a0days of age in girls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0681_abs_004\">\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Many boys and girls with C-CAH from Sri Lanka presented late with impending adrenal crisis. Males were diagnosed later, and some possibly succumbed to C-CAH undiagnosed. These findings support including CAH in NBS programs to avert preventable childhood morbidity and mortality.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0681","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T22:07:21Z","timestamp":1625090841000},"page":"1131-1137","source":"Crossref","is-referenced-by-count":4,"title":["Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999\u20132018) in the absence of newborn screening in Sri Lanka"],"prefix":"10.1515","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2960-9269","authenticated-orcid":false,"given":"Sumudu N.","family":"Seneviratne","sequence":"first","affiliation":[{"name":"Department of Paediatrics , Faculty of Medicine, University of Colombo , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Udara","family":"Sandakelum","sequence":"additional","affiliation":[{"name":"Department of Paediatrics , Faculty of Medicine, University of Colombo , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaminda H.","family":"Jayawardena","sequence":"additional","affiliation":[{"name":"Department of Paediatrics , Faculty of Medicine, University of Colombo , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashangi M.","family":"Weerasinghe","sequence":"additional","affiliation":[{"name":"Department of Paediatrics , Faculty of Medicine, University of Colombo , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piyumi S.","family":"Wickramarachchi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics , Faculty of Medicine, University of Colombo , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shamya","family":"de Silva","sequence":"additional","affiliation":[{"name":"Professor in Paediatrics, Department of Paediatrics , Faculty of Medicine, University of Colombo , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Podg\u00f3rski, R, Aebisher, D, Stompor, M, Podg\u00f3rska, D, Mazur, A. 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