Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence

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dc.authoridOdabasi Gunes, Sevinc/0000-0001-5979-9206
dc.contributor.authorKendirci, Havva Nur Peltek
dc.contributor.authorUnal, Edip
dc.contributor.authorDundar, Ismail
dc.contributor.authorBulus, Ayse Derya
dc.contributor.authorGunes, Sevinc Odabasi
dc.contributor.authorSiklar, Zeynep
dc.date.accessioned2025-02-22T14:08:38Z
dc.date.available2025-02-22T14:08:38Z
dc.date.issued2025
dc.departmentDicle Üniversitesien_US
dc.description.abstractCongenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (CYP21A2). 21-hydroxylase deficiency has been divided into classical and non-classical forms. In the treatment of classical CAH, it is necessary to replace both glucocorticoid (GC) and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin. In addition to biochemical measurements to evaluate the adequacy of GC and mineralocorticoid treatment; growth rate, body weight, blood pressure and physical examination should be evaluated regularly. There is insufficient data regarding the use of continuous slow-release or modified-release hydrocortisone (HC) preparations and continuous subcutaneous HC infusion, additional/alternative treatment approaches, and cell-based therapies and gene editing technology in children with CAH. GC therapy is recommended in children with inappropriately early onset and rapidly progressing pubarche or accelerated bone age progression, and in adolescents with non-classical CAH (NCCAH) who have overt virilization. In patients with NCCAH, stress doses of HC is recommended for major surgery, trauma, or childbirth but only if the patient has a suboptimal cortisol response to the adrenocorticotropic hormone test. Here, members of the 'Adrenal Working Group' of 'The Turkish Society for Pediatric Endocrinology and Diabetes' present an evidence-based review with good practice points and recommendations for optimize treatment, and follow-up of children with CAH due to 21-hydroxylase deficiency in the light of the most recent evidence.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2024.2024-6-26-S
dc.identifier.endpage22en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.pmid39713876en_US
dc.identifier.scopus2-s2.0-85215647582en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage12en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2024.2024-6-26-S
dc.identifier.urihttps://hdl.handle.net/11468/29529
dc.identifier.volume17en_US
dc.identifier.wosWOS:001398864800001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKA_WOS_20250222
dc.subjectCongenital adrenal hyperplasiaen_US
dc.subjectchildrenen_US
dc.subjectadolescenten_US
dc.subject21-hydroxylase deficiencyen_US
dc.subjectnon-classic congenital adrenal hyperplasiaen_US
dc.subjectglucocorticoid replacement treatmenten_US
dc.titleTreatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescenceen_US
dc.typeReviewen_US

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