Congenital adrenal hyperplasia associated with a no described mutation in the CYP17A1 gene

Keywords

Congenital adrenal hyperplasia
steroid 17-alpha-Hydroxylase
virilism
hypertension
sexual development
mutation

How to Cite

Builes-Montaño , C. E., Rueda-Galvis , M. V. ., Fragozo-Ramos, M. C. ., Agredo-Delgado , V., Zea-Lopera, J., & Muñetón-Peña, C. M. (2022). Congenital adrenal hyperplasia associated with a no described mutation in the CYP17A1 gene. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 9(2). https://doi.org/10.53853/encr.9.2.750

Abstract

Introduction: a defect in the CYP17A1 gene causes 17?-Hydroxylase/17,20-lyase deficiency. It encodes an enzyme that expresses both 17?-hydroxylase and 17,20-lyase activity in the adrenal glands and gonads. The phenotype of this condition is characteristic but may be shared by other enzyme defects. Therefore, the adequate genotype-phenotype relationship is essential for the correct diagnosis, to focus the treatment and the counseling of patients.

Case objective: To report for the first time a genetic variant potentially related to congenital adrenal hyperplasia in a patient with a phenotype compatible with a deficiency of 17?-hydroxylase and 17,20-lyase.

Case presentation: We present the case of a woman who consulted for sexual infantilism and primary amenorrhea in the presence of a 46XX karyotype. She developed hypertension and hypokalemia, which led to the diagnostic suspicion of congenital adrenal hyperplasia (CAH). A genetic study revealed a homozygous missense mutation in exon 8, c.1250 T>C; p. Phe417Ser of the CYP17A1 gene. Mutations in this location have previously been shown to suppress 17?-hydroxylase and 17,20-lyase activities, which could explain the observed phenotype. We report the missense mutation, c.1250 T>C; p. Phe417Ser, for the first time in the CYP17A1 gene related to HAC.

Conclusion: Genetic analyses in all patients with HAC are necessary to define the frequency of this and other mutations in the Colombian population and relate the disease's phenotype with its genotype.

https://doi.org/10.53853/encr.9.2.750

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