Congenital adrenal hyperplasia associated with a no described mutation in the CYP17A1 gene
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Congenital adrenal hyperplasia
steroid 17-alpha-Hydroxylase
sexual development

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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).


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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El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017;390(10108):2194–210.

Turcu AF, Auchus RJ. Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia. Endocrinol Metab Clin North Am. 2015;44(2):275–96.

Miller WL. Rare defects in adrenal steroidogenesis. Eur J Endocrinol. 2018;179(3): R125–41.

Biglieri EG, Herron MA, Brust N. 17-Hydroxylation Deficiency in Man *. 1966;45(12):1946–54.

Hinz L, Pacaud D, Kline G. Congenital adrenal hyperplasia causing hypertension: An illustrative review. J Hum Hypertens. 2018;32(2):150–7.

Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem Mol Biol. 2017; 165:71–8.

Picado-Leonard J, Miller WL. Cloning and Sequence of the Human Gene for P450cl7 (Steroid 17?-Hydroxylase/17,20 Lyase): Similarity with the Gene for P450c21. Dna. 1987;6(5):439–48.

Durán-pérez EG, Lourdes M De, Segovia-palomo A, Sánchez-pedraza V, Kofman-alfaro S, Arellano-montaño S, et al. Desórdenes de la diferenciación sexual por mutaciones en CYP17. 2009;17(4):153–60.

Adlyne Reena Asirvatham, Karthik Balachandran, Packiamary Jerome, Vettriselvi Venkatesan, Teena Koshy, Shriraam Mahadevan. Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17?-hydroxylase deficiency. J Pediatr Endocrinol Metab. 2020; 33(8): 1051–1056.

Costa-Santos M, Kater CE, Auchus RJ. Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase deficiency. J Clin Endocrinol Metab. 2004;89(1):49–60.

Han B, Cheng T, Zhu H, Yu J, Zhu WJ, Song HD, et al. Genetic Analysis of 25 Patients with 5 ? -Reductase Deficiency in Chinese Population. Biomed Res Int. 2020;2020.

Sparkes RS, Klisak I, Miller WL. Regional Mapping of Genes Encoding Human Steroidogenic Enzymes: P450scc to 15q23–q24, Adrenodoxin to 11q22; Adrenodoxin Reductase to 17q24–q25; and P450c17 to 10q24–q25. DNA Cell Biol. 1991;10(5):359–65.

Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, et al. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase Deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism. 2014;63(1):42–9.

Zhou Y, Xue X, Shi P, Lu Q, Lv S. Multidisciplinary team management of 46, XY 17?-hydroxylase deficiency: a case report and literature review. J Int Med Res. 2021;49(3).

Chen H, Yuan K, Zhang B, Jia Z, Chen C, Zhu Y, et al. A Novel Compound Heterozygous CYP17A1 Variant Causes 17?-Hydroxylase/17, 20-Lyase deficiency. Front Genet. 2019;10(October):1–9.

Escamilla-Márquez MA, Garduño-Garcia JDJ, Ordóñez-Sánchez ML, Reza-Albarrán A, Tusie-Luna MT, Gómez Pérez FJ, et al. Primary amenorrhea in two sisters: Description of a Mexican family with 17? hydroxylase-17 lyase deficiency caused by arginine stop mutation. Gynecol Endocrinol. 2012;28(9):733–5.

Biason-Lauber A, Leiberman E, Zachmann M. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. J Clin Endocrinol Metab. 1997;82(11):3807–12.

Biason-lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, et al. Study Enzymatic Activity Regulation: Role of Phosphorylation *. 2000;85(3):1226–31.

Gupta MK, Geller DH, Auchus RJ. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. J Clin Endocrinol Metab. 2001;86(9):4416–23.

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