CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS

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dc.contributor.authorAlmacan B.
dc.contributor.authorOzdemir N.
dc.contributor.authorOnay H.
dc.contributor.authorHekimsoy Z.
dc.date.accessioned2024-07-22T08:04:28Z
dc.date.available2024-07-22T08:04:28Z
dc.date.issued2022
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 µg/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 salt-wasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case. © 2022, Acta Endocrinologica Foundation. All rights reserved.
dc.identifier.DOI-ID10.4183/aeb.2022.228
dc.identifier.issn18410987
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/12707
dc.language.isoEnglish
dc.publisherActa Endocrinologica Foundation
dc.rightsAll Open Access; Green Open Access
dc.subjectcreatinine
dc.subjectdexamethasone
dc.subjecthydrocortisone
dc.subjectadult
dc.subjectallele
dc.subjectambiguous genitalia
dc.subjectarm circumference
dc.subjectArticle
dc.subjectbody mass
dc.subjectbody weight
dc.subjectcase report
dc.subjectchromosome analysis
dc.subjectclinical article
dc.subjectcongenital adrenal hyperplasia
dc.subjectechography
dc.subjectendometrial thickness
dc.subjectfemale
dc.subjectgene
dc.subjectgene frequency
dc.subjectgene mutation
dc.subjectgenetic association
dc.subjectgenetic screening
dc.subjectheterozygosity
dc.subjecthuman
dc.subjectkaryotype
dc.subjectobesity
dc.subjectphysical examination
dc.subjectpoint mutation
dc.subjectpubic hair
dc.subjectsalt wasting
dc.subjectsteroid 21 monooxygenase deficiency
dc.subjectvagina reconstruction
dc.subjectwaist circumference
dc.titleCONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS
dc.typeArticle

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