Publication:
Primary adrenal insufficiency in children: Diagnosis and management

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dc.contributor.authorKIRKGÖZ, TARIK
dc.contributor.authorsKirkgoz, Tarik; Fellow, Clinical; Guran, Tulay
dc.date.accessioned2022-03-12T22:24:35Z
dc.date.available2022-03-12T22:24:35Z
dc.date.issued2018
dc.description.abstractPrimary adrenal insufficiency (PAI) is a life-threatening disorder of adrenal cortex which is characterized by deficient biosynthesis of glucocorticoids, with or without deficiency in mineralocorticoids and adrenal androgens. Typical manifestations of primary adrenal insufficiency include hyperpigmentation, hypotension, hypoglycaemia, hyponatremia with or without hyperkalemia that are generally preceded by nonspecific symptoms at the onset. Recessively inherited monogenic disorders constitute the largest group of primary adrenal insufficiency in children. The diagnostic process of primary adrenal insufficiency includes demonstration of low cortisol concentrations along with high plasma ACTH and identifying the cause of the disorder. Specific molecular diagnosis is achieved in more than 80% of children with PAI by detailed clinical and biochemical characterization integrated with advanced molecular tools. Hormone replacement therapy determined on the type and the severity of deficient adrenocortical hormones is the mainstay of treatment. Optimized methods of steroid hormone delivery, improved monitoring of hormone replacement along with intensive education of patients and families on the rules during intercurrent illness and stress will significantly reduce the morbidity and mortality associated with primary adrenal insufficiency. (C) 2018 Elsevier Ltd. All rights reserved.
dc.identifier.doi10.1016/j.beem.2018.05.010
dc.identifier.eissn1532-1908
dc.identifier.issn1521-690X
dc.identifier.pubmed30086866
dc.identifier.urihttps://hdl.handle.net/11424/234796
dc.identifier.wosWOS:000445166200006
dc.language.isoeng
dc.publisherELSEVIER SCI LTD
dc.relation.ispartofBEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectprimary adrenal insufficiency
dc.subjectchildren
dc.subjectsteroid hormone
dc.subjectdiagnosis
dc.subjecttreatment
dc.subjectDUAL-RELEASE HYDROCORTISONE
dc.subjectPLASMA-RENIN ACTIVITY
dc.subjectSHORT SYNACTHEN TEST
dc.subject20 YEARS EXPERIENCE
dc.subjectQUALITY-OF-LIFE
dc.subjectFACTOR-I NR5A1
dc.subject21-HYDROXYLASE DEFICIENCY
dc.subject11-BETA-HYDROXYLASE DEFICIENCY
dc.subjectHYPOGONADOTROPIC HYPOGONADISM
dc.subjectREPLACEMENT REGIMENS
dc.titlePrimary adrenal insufficiency in children: Diagnosis and management
dc.typearticle
dspace.entity.typePublication
local.avesis.iddfed09ac-9948-4a48-8554-581d9704ba5f
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages28
local.journal.quartileQ2
oaire.citation.endPage424
oaire.citation.issue4
oaire.citation.startPage397
oaire.citation.titleBEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
oaire.citation.volume32
relation.isAuthorOfPublicationf7221220-6470-4a72-9aeb-bafab5f1977a
relation.isAuthorOfPublication.latestForDiscoveryf7221220-6470-4a72-9aeb-bafab5f1977a

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