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.
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