CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS

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dc.authorscopusid57487354700
dc.authorscopusid57194039438
dc.authorscopusid8929131500
dc.authorscopusid55968203700
dc.contributor.authorAlmacan, B.
dc.contributor.authorOzdemir, N.
dc.contributor.authorOnay, H.
dc.contributor.authorHekimsoy, Z.
dc.date.accessioned2023-01-12T20:16:27Z
dc.date.available2023-01-12T20:16:27Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractBackground. Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by congenital deficiency of enzymes involved in cortisol biosynthesis from cholesterol in the adrenal cortex. In this article, we aimed to present a 29-year-old female patient with I2 splice point mutation detected in one allele and P453S mutation on the other allele of CYP21A2 gene associated with 21-hydroxylase deficiency. Her further investigation revealed that her mother had P453S mutation and her father had I2 splice mutation. Case report. A 29-year-old woman with CAH was admitted to our clinic with the request of pregnancy. Her physical examination revealed a height of 151 cm, weight 59 kg, body mass index 25.8 kg/m2. According to Tanner staging, she had Stage 3 breast development and pubic hair. Her laboratory test results were as follows: Glucose: 79 mg/dL (70-100 mg/dL), Creatinine: 0.6 (0.5-0.95 mg/ dL), Sodium: 138 mEq/L (135-145 mEq/L), Potassium: 4.4 mEq/L (3.5-5.1 mEq/L), Cortisol: 0.05 mu g/dL, ACTH: <5.00 pg/mL (5-46 pg/mL), 17-OH progesterone: 7.67 ng/mL (0-3 ng/mL). Chromosome analysis revealed a 46, XX karyotype. CYP21A2 gene mutation analysis was performed for the patient whose clinical history and laboratory results were compatible with congenital adrenal hyperplasia. During the reverse dot blot analysis, I2 splice mutation in one allele and P453S mutation in the other allele were detected. Conclusion. Although the I2 splice mutation detected in our case was mostly associated with a saltwasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case.en_US
dc.identifier.doi10.4183/aeb.2022.228
dc.identifier.endpage231en_US
dc.identifier.issn1841-0987
dc.identifier.issn1843-066X
dc.identifier.issue2en_US
dc.identifier.pmid36212252en_US
dc.identifier.scopus2-s2.0-85139519267en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage228en_US
dc.identifier.urihttps://doi.org/10.4183/aeb.2022.228
dc.identifier.urihttps://hdl.handle.net/11454/78717
dc.identifier.volume18en_US
dc.identifier.wosWOS:000891751400015en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherEditura Acad Romaneen_US
dc.relation.ispartofActa Endocrinologica-Bucharesten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCongenital adrenal hyperplasiaen_US
dc.subjectP453Smutationen_US
dc.subjectI2 splice mutationen_US
dc.subjectSteroid 21-Hydroxylase Deficiencyen_US
dc.subjectGenotype-Phenotype Correlationen_US
dc.titleCONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONSen_US
dc.typeArticleen_US

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