Laboratory Examination in Congenital Adrenal Hyperplasia: A Literature Review
DOI:
https://doi.org/10.58344/jws.v5i2.1628Keywords:
Androgen, Andrenal, Biomarker, Screening, ConfirmatoryAbstract
Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands, which produce essential hormones such as cortisol, aldosterone, and sex steroids. The most common form of CAH is caused by a 21-hydroxylase enzyme deficiency resulting from mutations in the CYP21A2 gene. This deficiency disrupts normal cortisol and aldosterone production, leading to excessive androgen synthesis and a range of clinical manifestations, including ambiguous genitalia in females and adrenal crisis in both sexes. Current biomarkers, such as 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone, have limitations, and further research on 11-oxygenated androgens—which are more specific for CAH—is needed. Non-invasive methods, such as measuring steroids in saliva and urine, are increasingly accessible and useful, particularly for children showing signs of hyperandrogenism.
References
Andina, Indri. (2023). An overview of the female reproductive system: A narrative literature review. Sriwijaya Journal of Obstetrics and Gynecology, 1(2), 73–80.
Besci, Özge, Erba?, ?brahim Mert, Küme, Tuncay, Acinikli, Kübra Yüksek, Abac?, Ayhan, Böber, Ece, & Demir, Korcan. (2022). A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort? Journal of Clinical Research in Pediatric Endocrinology, 14(2), 145.
Bizzarri, Carla, Chioma, Laura, Bottaro, Giorgia, Paone, Laura, Todisco, Tommaso, Chiarito, Mariangela, Surace, Cecilia, Porzio, Ottavia, D’Alessandro, Annamaria, & Ravà, Lucilla. (2025). Diagnostic cut-offs of 17-hydroxyprogesterone by LC-MS/MS in children with non-classical congenital adrenal hyperplasia. Journal of Endocrinological Investigation, 48(7), 1623–1633.
Claahsen-Van Der Grinten, Hedi L., Speiser, Phyllis W., Ahmed, S. Faisal, Arlt, Wiebke, Auchus, Richard J., Falhammar, Henrik, Flück, Christa E., Guasti, Leonardo, Huebner, Angela, & Kortmann, Barbara B. M. (2022). Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management. Endocrine Reviews, 43(1), 91–159.
Feng, Disheng, Wang, Zixuan, Li, Hang, Shi, Xianzhe, Zou, Lin, Kong, Hongwei, Xu, Zhiliang, Yu, Chaowen, Hu, Chunxiu, & Xu, Guowang. (2023). Steroid profiling for the diagnosis of congenital adrenal hyperplasia by microbore ultra-performance liquid chromatography–tandem mass spectrometry. Clinica Chimica Acta, 543, 117304.
Kelestimur, Fahrettin, & Unluhizarci, Kursad. (2021). Congenital Adrenal Hyperplasia (CAH): Definition and Enzymatic Defects in Various Forms. In Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia (pp. 1–18). Springer.
Kufoof, Tamara, Saad, Randa K., Al-Ghawanmeh, Redab, Sawaqed, Seri, Hamdan, Zaid, Qolaghasi, Zaid, Alswiti, Adnan, Sharkas, Layan, & Sharkas, Osama. (2025). Association between short stature and behavioral and emotional difficulties among children in Jordan: a cross-sectional study. Frontiers in Endocrinology, 16, 1630919.
Lipkin, Paul H., Macias, Michelle M., Norwood, Kenneth W., Brei, Timothy J., Davidson, Lynn F., Davis, Beth Ellen, Ellerbeck, Kathryn A., Houtrow, Amy J., Hyman, Susan L., & Kuo, Dennis Z. (2020). Promoting optimal development: identifying infants and young children with developmental disorders through developmental surveillance and screening. Pediatrics, 145(1).
Loli, Paola, Menotti, Sara, di Filippo, Luigi, & Giustina, Andrea. (2025). Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment. Endocrine, 90(1), 1–16.
Mallappa, Ashwini, & Merke, Deborah P. (2022). Management challenges and therapeutic advances in congenital adrenal hyperplasia. Nature Reviews Endocrinology, 18(6), 337–352.
Mizdrak, Maja, Ti?inovi? Kurir, Tina, & Boži?, Joško. (2021). The role of biomarkers in adrenocortical carcinoma: a review of current evidence and future perspectives. Biomedicines, 9(2), 174.
Nakhleh, Afif, Saiegh, Leonard, Shehadeh, Naim, Weintrob, Naomi, Sheikh-Ahmad, Mohammad, Supino-Rosin, Lia, Alboim, Sandra, Gendelman, Raya, & Zloczower, Moshe. (2023). Screening for non-classic congenital adrenal hyperplasia in women: new insights using different immunoassays. Frontiers in Endocrinology, 13, 1048663.
Nella, Aikaterini A., Mallappa, Ashwini, Perritt, Ashley F., Gounden, Verena, Kumar, Parag, Sinaii, Ninet, Daley, Lori Ann, Ling, Alexander, Liu, Chia Ying, & Soldin, Steven J. (2016). A phase 2 study of continuous subcutaneous hydrocortisone infusion in adults with congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism, 101(12), 4690–4698.
Omona, Kizito, & Ssanyu, Balamaga Samuel. (2025). Biology and Pathology of Cortisol in Sexual Dysfunctions. In Handbook of the Biology and Pathology of Mental Disorders (pp. 2629–2652). Springer.
Paparella, Roberto, Panvino, Fabiola, Pucarelli, Ida, Niceta, Marcello, Spaziani, Matteo, Spalice, Alberto, Pisani, Francesco, Ardizzone, Ignazio, & Tarani, Luigi. (2026). Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients. European Journal of Pediatrics, 185(1), 11.
Podgórski, Rafa?, Podgórska, Dominika, & Sumi?ska, Marta. (2023). A recent overview of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: pathophysiology, recognition, and management. Pediatria Polska-Polish Journal of Paediatrics, 98(4), 307–319.
Speiser, Phyllis W., Arlt, Wiebke, Auchus, Richard J., Baskin, Laurence S., Conway, Gerard S., Merke, Deborah P., Meyer-Bahlburg, Heino F. L., Miller, Walter L., Murad, M. Hassan, & Oberfield, Sharon E. (2018). Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism, 103(11), 4043–4088.
Weisser, Johan Juhl, Hansen, Cecilie Hurup, Poulsen, Rikke, Larsen, Lizette Weber, Cornett, Claus, & Styrishave, Bjarne. (2016). Two simple cleanup methods combined with LC-MS/MS for quantification of steroid hormones in in vivo and in vitro assays. Analytical and Bioanalytical Chemistry, 408(18), 4883–4895.
Wille, Sarah M. R., Coucke, Wim, De Baere, Thierry, & Peters, Frank T. (2017). Update of standard practices for new method validation in forensic toxicology. Current Pharmaceutical Design, 23(36), 5442–5454.
Witchel, Selma F., & Miller, Walter L. (2021). Ambiguous genitalia in the newborn. In Endocrine Emergencies: Recognition and Treatment (pp. 223–238). Springer.
Zhang, Yingying, Wang, Jingyi, Zhao, Jianxin, Huang, Guoying, Liu, Kaibo, Pan, Wei, Sun, Luming, Li, Jun, Xu, Wenli, & He, Chunhua. (2023). Current status and challenges in prenatal and neonatal screening, diagnosis, and management of congenital heart disease in China. The Lancet Child & Adolescent Health, 7(7), 479–489.
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