Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

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dc.authoridOdabasi Gunes, Sevinc/0000-0001-5979-9206
dc.contributor.authorGunes, Sevinc Odabasi
dc.contributor.authorKendirci, Havva Nur Peltek
dc.contributor.authorUnal, Edip
dc.contributor.authorBulus, Ayse Derya
dc.contributor.authorDundar, Ismail
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. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype. In the classical form, the external genitalia in females becomes virilized to varying degrees. If the disease is not recognized, salt wasting crises in the classical form may threaten life in neonates. Children experience accelerated somatic growth, increased bone age, and premature pubic hair in the simple virilizing form of classical 21-OHD. Female adolescents may present with severe acne, hirsutism, androgenic alopecia, menstrual irregularity or primary amenorrhea in the non-classical form. Diagnosis of CAH is made by clinical, biochemical and molecular genetic evaluation. In cases of 21-OHD, the diagnosis is based on the 17-hydroxyprogesterone (17-OHP) level being above 1000 ng/dL, measured early in the morning. In cases with borderline 17-OHP levels (200-1000 ng/dL), it is recommended to perform an adrenocorticotropic hormone (ACTH) stimulation test. Genotyping in cases with CAH should be performed if the adrenocortical profile is suspicious or if the ACTH stimulation test cannot be performed completely. After diagnosis, determining the carrier status of the parents and determining which parent the mutation was passed on from will help in interpreting the genetic results and determining the risk of recurrence in subsequent pregnancies.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2024.2024-6-6-S
dc.identifier.endpage11en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.pmid39713855en_US
dc.identifier.scopus2-s2.0-85215647686en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage3en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2024.2024-6-6-S
dc.identifier.urihttps://hdl.handle.net/11468/29528
dc.identifier.volume17en_US
dc.identifier.wosWOS:001396325400001en_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.subject21-hydroxylase deficiencyen_US
dc.subjectchildrenen_US
dc.subjectadolescenten_US
dc.subjectdiagnosisen_US
dc.titleClinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiencyen_US
dc.typeReviewen_US

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