Keywords
How to Cite
Abstract
Introduction: Congenital adrenal hyperplasia (CAH) is a set of autosomal recessive pathology, described by the production of steroids in the adrenal cortex, frequently caused by deficiency of the 21-hydroxylase enzyme. Objective: To evaluate the diagnostic and therapeutic implications of adrenal hyperplasia. Methodology: This is a bibliographic review that included original articles and systematic reviews in English and Portuguese, which addressed the diagnosis and management of CAH, published between 2011 and 2024, selected from the PubMed, Scopus and SciELO databases. After careful selection, 25 articles were chosen to compose this bibliographic review. Results: The detection of high levels of 17-hydroxyprogesterone (17-OHP) in serum samples studied is fundamental in the diagnosis of classic CAH, just as the corticotropin stimulation test is the gold standard for hormonal diagnosis, being crucial for the distinction from the non-classical form of CAH. Treatment focuses on replacing glucocorticoids and mineralocorticoids, with the aim of preventing adrenal crises and controlling excessive androgen production. Considerations: Early diagnosis of CAH is essential for adequate management of the condition. Treatment of the condition is individualized, focusing on maintaining normal growth and development, with regular monitoring of clinical signs and adjustment of doses, with no intention of avoiding adrenal crises, as well as pharmacological side effects.
References
BACHELOT, A. Transition of care from childhood to adulthood: congenital adrenal hyperplasia. Endocr Dev., v. 33, p. 17-33, 2018.
BARILLAS, J. E. et al. Iatrogenic Cushing syndrome in a child with congenital adrenal hyperplasia: erroneous compounding of hydrocortisone. J Clin Endocrinol Metab., v. 103, n. 1, p. 7-11, 2018.
BONFIG, W. et al. Sodium chloride supplementation is not routinely performed in the majority of German and Austrian infants with classic salt-wasting congenital adrenal hyperplasia and has no effect on linear growth and hydrocortisone or fludrocortisone dose. Horm Res Paediatr., v. 89, n. 1, p. 7-12, 2018.
DONDOURP, W.; DE WERT, G. Refining the ethics of preimplantation genetic diagnosis: a plea for contextualized proportionality. Bioethics., v. 33, n. 2, p. 294-301, 2019.
DÖRR, H. G. et al. Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Mol Cell Pediatr., v. 7, n. 1, p. 8, 2020.
FALHAMMAR, H.; WEDELL, A.; NORDENSTRÖM, A. Biochemical and genetic diagnosis of 21-hydroxylase deficiency. Endocrine., v. 50, n. 2, p. 306-314, 2015.
GAUDL, A.; KRATZSCH, J.; CEGLAREK, U. Advancement in steroid hormone analysis by LC-MS/MS in clinical routine diagnostics - a three year recap from serum cortisol to dried blood 17α-hydroxyprogesterone. J Steroid Biochem Mol Biol., v. 192, p. 105389, 2019.
GLEESON, H. et al. The challenge of delivering endocrine care and successful transition to adult services in adolescents with congenital adrenal hyperplasia: experience in a single centre over 18 years. Clin Endocrinol (Oxf)., v. 78, n. 1, p. 23-28, 2013.
GRECSÓ, N. et al. Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia. PLoS One., v. 15, n. 5, p. e0233724, 2020.
HINDMARSH, P. C.; CHARMANDARI, E. Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations. Clin Endocrinol (Oxf)., v. 82, n. 4, p. 557-561, 2015.
KULLE, A. et al.; EU COST Action. Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’. Eur J Endocrinol., v. 176, n. 5, p. P1-P9, 2017.
LIN-SU, K. et al. Final adult height in children with congenital adrenal hyperplasia treated with growth hormone. J Clin Endocrinol Metab., v. 96, n. 6, p. 1710-1717, 2011.
MELIN, J. et al. Pharmacokinetic/pharmacodynamic evaluation of hydrocortisone therapy in pediatric patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab., v. 105, n. 3, p. e1729-e1740, 2020.
NEUMANN, U. et al. Quality of compounded hydrocortisone capsules used in the treatment of children. Eur J Endocrinol., v. 177, n. 2, p. 239-242, 2017.
NEW, M. I. et al. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab., v. 99, n. 6, p. E1022-E1030, 2014.
NG, S. M.; STEPIEN, K. M.; KRISHAN, A. Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia. Cochrane Database Syst Rev., v. 3, CD012517, 2020.
NORDENSTRÖM, A.; FALHAMMAR, H. MANAGEMENT OF ENDOCRINE DISEASE: diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency. Eur J Endocrinol., v. 180, n. 3, p. R127-R145, 2019.
PAIZONI, L. et al. Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Steroid Biochem Mol Biol., v. 197, n. 8, p. 105540, 2020.
PIJNENBURG-KLEIZEN, K. J. et al. A delayed diagnosis of salt-wasting congenital adrenal hyperplasia. Clin Endocrinol (Oxf)., v. 85, n. 3, p. 497-499, 2016.
PIJNENBURG-KLEIZEN, K. J. et al. Absence of clinically relevant growth acceleration in untreated children with non-classical congenital adrenal hyperplasia. Horm Res Paediatr., v. 77, n. 3, p. 164-169, 2012.
PIJNENBURG-KLEIZEN, K. J. et al. Long-term follow-up of children with classic congenital adrenal hyperplasia: suggestions for age dependent treatment in childhood and puberty. J Pediatr Endocrinol Metab., v. 32, n. 10, p. 1055-1063, 2019.
REISCH, N. Review of health problems in adult patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Exp Clin Endocrinol Diabetes., v. 127, n. 2-3, p. 171-177, 2019.
SPEISER, P. W. et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab., v. 103, n. 11, p. 4043-4088, 2018.
TURCU, A. F. et al. Androgen excess and diagnostic steroid biomarkers for nonclassic 21-hydroxylase deficiency without cosyntropin stimulation. Eur J Endocrinol., v. 183, n. 1, p. 63-71, 2020.
WHITTLE, E.; FALHAMMAR, H. Glucocorticoid regimens in the treatment of congenital adrenal hyperplasia: a systematic review and meta-analysis. J Endocr Soc., v. 3, n. 6, p. 1227-1245, 2019.
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2024 Ruane Clemente Costa d’Oliveira , Marcos Vinícius Lima Galindo, Wilson Moraes Amaral Júnior , Hulfshoff Damasceno Gama, Julyana Eulália Pereira Pessoa, Monique Fany de Oliveira Rocha, Anna Beatriz Ramalho Cavalcanti de Andrade, Gabriela da Rocha Tenório Cavalcante , Bruno Oliveira Góes , Larissa Milena Nogarolli Badin , Guilherme Alves Damasceno Texeira Gama, Ana Paula Barbosa Casado, Paulo Vytor Cardoso Nobre