{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T07:01:24Z","timestamp":1790146884651,"version":"4.0.1"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Triple A syndrome (OMIM #231550) is a rare autosomal recessive disorder defined by the triad of alacrima, adrenal insufficiency, and achalasia. Around 100 to 150 cases have been reported in the world literature since 1978. We report the first case diagnosed in French Guiana, in a 5-year-old boy who presented with severe hypoglycemic episodes. Exome sequencing identified a homozygous pathogenic variant in the AAAS gene (NM_015665.6:c.43C\u2009&amp;gt;\u2009A, p.Gln15Lys \u2014 ACMG Class 5). Family testing confirmed heterozygous carrier status in both parents, while the younger brother was found to be homozygous wild-type and unaffected. The clinical course under hydrocortisone replacement has been favorable. A literature review and comparative analysis are presented to place this case in context and to highlight the phenotypic and molecular variability of the syndrome.<\/jats:p>","DOI":"10.3389\/fped.2026.1906922","type":"journal-article","created":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:17:16Z","timestamp":1790144236000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: First case of Triple A syndrome diagnosed in French Guiana: clinical presentation, molecular confirmation, and literature review"],"prefix":"10.3389","volume":"14","author":[{"given":"Mody","family":"Diop","sequence":"first","affiliation":[{"name":"Specialized Clinical Genetics Consultation, Women-Child Division, CH Andr\u00e9e Rosemon","place":["Cayenne, French Guiana"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Telcide","family":"Roosler Billy","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Women-Child Division, CHU de Guyane","place":["Cayenne, French Guiana"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narcisse","family":"Elenga","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Women-Child Division, CHU de Guyane","place":["Cayenne, French Guiana"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1016\/S0140-6736(78)91268-0","article-title":"Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production","volume":"1","author":"Allgrove","year":"1978","journal-title":"Lancet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1093\/brain\/awf270","article-title":"Clinical and genetic characterisation of families with triple A (allgrove) 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severe presentation of triple A syndrome \u2014 case report and review of the literature","volume":"15","author":"Cehic","year":"2024","journal-title":"Front Endocrinol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.12669\/pjms.336.13684","article-title":"Aaa syndrome, case report of a rare disease","volume":"33","author":"Shah","year":"2017","journal-title":"Pak J Med Sci"},{"key":"B8","doi-asserted-by":"publisher","first-page":"e20474","DOI":"10.1097\/MD.0000000000020474","article-title":"Case report of a familial triple A syndrome and review of the literature","volume":"99","author":"Gaiani","year":"2020","journal-title":"Medicine (Baltimore)"},{"key":"B9","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1159\/000533894","article-title":"Triple-A syndrome in Morocco: founder effect, age estimation of the AAAS c.1331+1G>A variant, and implications for genetic diagnosis","volume":"15","author":"Belmokhtar","year":"2023","journal-title":"Mol Syndromol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.arcmed.2016.04.004","article-title":"Clinical and genetic characterization of 26 Tunisian patients with allgrove syndrome","volume":"47","author":"Kallabi","year":"2016","journal-title":"Arch Med Res"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1906922\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:17:17Z","timestamp":1790144237000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1906922\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,23]]},"references-count":10,"alternative-id":["10.3389\/fped.2026.1906922"],"URL":"https:\/\/doi.org\/10.3389\/fped.2026.1906922","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,23]]},"article-number":"1906922"}}