Adrenogenital Syndrome (AGS) is a rare inherited endocrine disorder caused by a genetic defect in the adrenal glands. It is characterized by elevated levels of androgens, the male hormones, which lead to abnormal development of the genitals and other physical features. AGS affects both males and females, although it is more severe in males. The primary cause of AGS is a mutation in the CYP21A2 gene, which encodes the enzyme 21-hydroxylase. This enzyme is responsible for catalyzing the conversion of progesterone to 11-deoxycorticosterone (DOC) in the adrenal cortex, and a lack of 21-hydroxylase activity results in elevated levels of progesterone and DOC. Symptoms of AGS vary depending on the sex of the patient but typically involve genital malformation, early puberty, and infertility. Diagnosis of AGS can be made based on clinical presentation, laboratory tests, and genetic testing. Treatment primarily consists of glucocorticoid and mineralocorticoid replacement therapy, and in some cases, surgery to correct genital malformation.
Adrenogenital Syndrome (AGS) is a rare genetic disorder that affects the adrenal glands, resulting in abnormal production of hormones. AGS is caused by mutations in the CYP21A2 gene, which encodes the enzyme 21-hydroxylase. This enzyme is responsible for catalyzing the conversion of progesterone to 11-deoxycorticosterone (DOC) in the adrenal cortex, and a lack of 21-hydroxylase activity results in elevated levels of progesterone and DOC. AGS is characterized by genital malformation, early puberty, and infertility, and symptoms vary depending on the sex of the patient. Diagnosis of AGS is based on clinical presentation, laboratory tests, and genetic testing. Treatment primarily consists of glucocorticoid and mineralocorticoid replacement therapy, and in some cases, surgery to correct genital malformation.
Adrenogenital Syndrome (AGS) is a serious disorder with significant physical and psychological effects on affected individuals. Early diagnosis is important so that appropriate treatment can be started as soon as possible. With proper management, most people with AGS can lead normal and productive lives.
References
Mamik, M. K., & Chernausek, S. D. (2010). Adrenogenital syndrome. Endotext. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK279058/
Chang, Y. C., Yang, C. H., & Chang, C. C. (2020). Adrenogenital Syndrome. In StatPearls. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK537257/
Kumar, R., & Bhatia, E. (2013). Adrenogenital Syndrome: Diagnosis and Management. Indian Journal of Endocrinology and Metabolism, 17(3), 484–490. https://doi.org/10.4103/2230-8210.111485