Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X
Article Sidebar
Main Article Content
Case Description:
The phenotype of the deficiency of heterozygote 11 beta-hydroxylase composed of the Q356X and R384X mutations is described.
Clinical Findings:
Severe virilization, peripheral hypertension, and early puberty.
Treatment and Outcome:
Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension.
Clinical Relevance:
According to the phenotypic characteristics of the patient, it is inferred that theR384X mutation carries an additional burden on the Q356X mutation, with the latter previously described as a cause of 11 beta-hydroxylase deficiency. The description of a new genotype, as in this case, expands the understanding of the hereditary burden and deciphers the various factors that lead to this pathology as well as the other forms of congenital adrenal hyperplasia (CAH), presenting with a broad spectrum of clinical presentations. This study highlights the importance of a complete description of the patient's CAH genetic profile as well as their parents' genetic profile.
Nimkarn S, New MI. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab. 2008;19(3):96-99. DOI: https://doi.org/10.1016/j.tem.2008.01.002
Zachmann M, Tassinari D, Prader A. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients. J Clin Endocrinol Metab. 1983;56(2):222-229. DOI: https://doi.org/10.1210/jcem-56-2-222
Curnow KM, Slutsker L, Vitek J, et al. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci USA. 1993;90(10):4552-4556. DOI: https://doi.org/10.1073/pnas.90.10.4552
Paperna T, Gershoni-Baruch R, Badarneh K, Kasinetz L, Hochberg Z. Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. J Clin Endocrinol Metab. 2005;90(9):5463-5465. DOI: https://doi.org/10.1210/jc.2005-1145
Chua SC, Szabo P, Vitek A, Grzeschik KH, John M, White PC. Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11). Proc Natl Acad Sci USA. 1987;84(20):7193-7197. DOI: https://doi.org/10.1073/pnas.84.20.7193
Soardi FC, Penachioni JY, Justo GZ, et al. Novel mutations in CYP11B1 gene leading to 11β-hydroxylase deficiency in Brazilian patients. J Clin Endocrinol Metab. 2009;94(9):3481-3485. DOI: https://doi.org/10.1210/jc.2008-2521
Kharrat M, Trabelsi S, Chaabouni M, et al. Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V. Clin Genet. 2010;78(4):1399-1401. DOI: https://doi.org/10.1111/j.1399-0004.2010.01403.x
Dumic K, Yuen T, Grubic Z, Kusec V, Barisic I, New MI. Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency. Int J Endocrinol. 2014;2014(2014):185974. DOI: https://doi.org/10.1155/2014/185974
Antal Z, Zhou P. Congenital Adrenal Hyperplasia: Diagnosis, Evaluation, and Management. Pediatr Rev. 2009;30(7):e49-57. DOI: https://doi.org/10.1542/pir.30-7-e49
Peter M. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency. Semin Reprod Med. 2002;20(3):249-254. DOI: https://doi.org/10.1055/s-2002-35389
Reisch N, Högler W, Parajes S, et al. A diagnosis not to be missed: Non-classic steroid 11ß-hydroxylase deficiency presenting with premature adrenarche and hirsutism. J Clin Endocrinol Metab. 2013;98(10):1620-1625. DOI: https://doi.org/10.1210/jc.2013-1306
Dunand A, Roger M, Chaussain JL, Nocton F, Job JC. [Congenital virilizing adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Study of eleven cases (author's transl)]. Sem Hop. 1981;57(33-36):1392-1397.
German A, Suraiya S, Tenenbaum-Rakover Y, Koren I, Pillar G, Hochberg Z. Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy. J Clin Endocrinol Metab. 2008;93(12):4707-4710. DOI: https://doi.org/10.1210/jc.2008-0519
Downloads
- Carlos Alberto Ordoñez, Mónica Morales, Johanna Carolina Rojas-Mirquez, Francisco Javier Bonilla-Escobar, Marisol Badiel, Fernando Miñán Arana, Adolfo González, Luis Fernando Pino, Amadeus Uribe-Gómez, Mario Alain Herrera, Maria Isabel Gutiérrez-Martínez, Juan Carlos Puyana, Michael Abutanos, Rao R. Ivatury, Trauma Registry of the Pan American Society of Trauma: One year of experience in two referral centers in the colombian southwestern , Colombia Medica: Vol. 47 No. 3 (2016)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The copy rights of the articles published in Colombia Médica belong to the Universidad del Valle. The contents of the articles that appear in the Journal are exclusively the responsibility of the authors and do not necessarily reflect the opinions of the Editorial Committee of the Journal. It is allowed to reproduce the material published in Colombia Médica without prior authorization for non-commercial use