{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T14:18:54Z","timestamp":1780755534683,"version":"3.54.1"},"reference-count":25,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:00:00Z","timestamp":1707091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:00:00Z","timestamp":1707091200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Aldosterone synthase deficiency is a rare autosomal recessive disease characterized by vomiting, dehydration, salt wasting, life-threatening hyperkalemia in infancy, followed by failure to thrive. It results from pathogenic variants in &lt;i&gt;CYP11B2&lt;\/i&gt;. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; A boy, born in Montreal to Lebanese parents who are first cousins, was referred at 9 days of life for severe dehydration. A diagnosis of primary adrenal insufficiency was made, and treatment was started with fludrocortisone and hydrocortisone. Exome sequencing revealed a homozygous variant p.(Asn201Asp)(N201D) in &lt;i&gt;CYP11B2&lt;\/i&gt;. In silico, this variant was considered benign, but in vitro functional expression studies established it caused the severe aldosterone deficiency. It ended the diagnostic odyssey and allowed to safely stop hydrocortisone replacement. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; If a gene variant co-segregates with a phenotype, in vitro functional studies are required even if in silico studies are negative. <\/jats:p>","DOI":"10.1159\/000536437","type":"journal-article","created":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T08:06:10Z","timestamp":1707811570000},"page":"1-7","source":"Crossref","is-referenced-by-count":1,"title":["Severe Aldosterone Synthase Deficiency in a 9-Day-Old Lebanese Boy: The Importance of Functional Studies to Establish Pathogenicity of Seemingly Benign Variants in &lt;i&gt;CYP11B2&lt;\/i&gt;"],"prefix":"10.1159","author":[{"given":"Chiraz","family":"Ghaddhab","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron P.","family":"Capper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Larriv\u00e9e-Vanier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wissam","family":"Fayad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Olivier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Van Vliet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Auchus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johnny","family":"Delado\u00eby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/mend-5-10-1513"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-43-1-92"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2003.10.013"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6823-14-29"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.steroids.2019.108448"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.74.6.1592889"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199603000-00027"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.1128"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.11.4996"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0016"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.7b00034"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.200.313"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-24-7-669"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0470589"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-44-2-279"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000179034"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-59-4-689"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-012-1792-7"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-016-0282-3"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62056"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa765"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.04.016"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1159\/000023374"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvaa183"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab619"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/doi\/10.1159\/000536437\/4227125\/000536437.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/doi\/10.1159\/000536437\/4227125\/000536437.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:07:27Z","timestamp":1745424447000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,5]]},"references-count":25,"URL":"https:\/\/doi.org\/10.1159\/000536437","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.25143731","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,5]]}}}