{"id":211,"date":"2023-12-21T09:18:15","date_gmt":"2023-12-21T09:18:15","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=21ce9bee0b4d91f483f80398131a8915"},"modified":"2023-12-21T09:18:15","modified_gmt":"2023-12-21T09:18:15","slug":"genetic-and-phenotypic-spectrum-of-non-21-hydroxylase-deficiency-primary-adrenal-insufficiency-in-childhood-data-from-111-chinese-patients","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/genetic-and-phenotypic-spectrum-of-non-21-hydroxylase-deficiency-primary-adrenal-insufficiency-in-childhood-data-from-111-chinese-patients\/","title":{"rendered":"Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients"},"content":{"rendered":"\n<sec><st>Background<\/st>\n<p>Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. Differential diagnosis of numerous causes of PAI requires a thorough understanding of the condition.<\/p>\n<\/sec>\n<sec><st>Methods<\/st>\n<p>To describe the genetic composition and presentations of PAI. The following data were collected retrospectively from 111 patients with non-21OHD with defined genetic diagnoses: demographic information, onset age, clinical manifestations, laboratory findings and genetic results. Patients were divided into four groups based on the underlying pathogenesis: (1) impaired steroidogenesis, (2) adrenal hypoplasia, (3) resistance to adrenocorticotropic hormone (ACTH) and (4) adrenal destruction. The age of onset was compared within the groups.<\/p>\n<\/sec>\n<sec><st>Results<\/st>\n<p>Mutations in the following genes were identified: <I>NR0B1<\/I> (n=39), <I>STAR<\/I> (n=33), <I>CYP11B1<\/I> (n=12), <I>ABCD1<\/I> (n=8), <I>CYP17A1<\/I> (n=5), <I>HSD3B2<\/I> (n=4), <I>POR<\/I> (n=4), <I>MRAP<\/I> (n=2), <I>MC2R<\/I> (n=1), <I>CYP11A1<\/I> (n=1), <I>LIPA<\/I> (n=1) and <I>SAMD9<\/I> (n=1). Frequent clinical manifestations included hyperpigmentation (73.0%), dehydration (49.5%), vomiting (37.8%) and abnormal external genitalia (23.4%). Patients with adrenal hypoplasia typically presented manifestations earlier than those with adrenal destruction but later than those with impaired steroidogenesis (both p&lt;0.01). The elevated ACTH (92.6%) and decreased cortisol (73.5%) were the most common laboratory findings. We generated a differential diagnosis flowchart for PAI using the following clinical features: 17-hydroxyprogesterone, very-long-chain fatty acid, external genitalia, hypertension and skeletal malformation. This flowchart identified 84.8% of patients with PAI before next-generation DNA sequencing.<\/p>\n<\/sec>\n<sec><st>Conclusions<\/st>\n<p>  <I>STAR<\/I> and <I>NR0B1<\/I> were the most frequently mutated genes in patients with non-21OHD PAI. Age of onset and clinical characteristics were dependent on aetiology. Combining clinical features and molecular tests facilitates accurate diagnosis.<\/p>\n<\/sec>\n","protected":false},"excerpt":{"rendered":"<p>Background<br \/>\nPrimary adrenal insufficiency (PAI) is a rare but life-threatening condition. Differential diagnosis of numerous causes of PAI requires a thorough understanding of the condition.<\/p>\n<p>Methods<br \/>\nTo describe the genetic composition and presentation&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[],"class_list":["post-211","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/211","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=211"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/211\/revisions"}],"predecessor-version":[{"id":212,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/211\/revisions\/212"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=211"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=211"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=211"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}