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

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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.accessioned2026-04-04T13:30:50Z
dc.date.available2026-04-04T13:30:50Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
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.
dc.identifier.doi10.4274/jcrpe.galenos.2024.2024-6-6-S
dc.identifier.endpage11
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.orcid0000-0001-5979-9206
dc.identifier.orcid0000-0003-1468-6405
dc.identifier.pmid39713855
dc.identifier.scopus2-s2.0-85215647686
dc.identifier.scopusqualityQ2
dc.identifier.startpage3
dc.identifier.trdizinid1316615
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2024.2024-6-6-S
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1316615
dc.identifier.urihttps://hdl.handle.net/11616/108404
dc.identifier.volume17
dc.identifier.wosWOS:001396325400001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGalenos Publ House
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryDiğer
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectCongenital adrenal hyperplasia
dc.subject21-hydroxylase deficiency
dc.subjectchildren
dc.subjectadolescent
dc.subjectdiagnosis
dc.titleClinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
dc.typeReview

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