We report the case of a neonate with 21-hydroxylase deficiency who was diagnosed with the typical appearance of the adrenal glands for CAH revealed with ultrasonography
📌 3 Key Takeaways
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Objective & Hypothesis:Congenital adrenal hyperplasia CAH is a relatively rare inherited disease that primarily affects the synthesis of steroid hormones by the adrenal glands.
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Key Findings & Data:In patients who are clinically suspected, a definitive diagnosis is established with the detection of increased levels of precursor hormones.
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Conclusion & Impact:We report the case of a neonate with 21-hydroxylase deficiency who was diagnosed with the typical appearance of the adrenal glands for CAH revealed with ultrasonography
Congenital adrenal hyperplasia CAH is a relatively rare inherited disease that primarily affects the synthesis of steroid hormones by the adrenal glands. Patients usually present in the weeks following birth with salt wasting and virilization. In patients who are clinically suspected, a definitive diagnosis is established with the detection of increased levels of precursor hormones. An evaluation of the adrenal glands by ultrasonography may help make an accurate diagnosis of CAH prior to a biochemical confirmation. We report the case of a neonate with 21-hydroxylase deficiency who was diagnosed with the typical appearance of the adrenal glands for CAH revealed with ultrasonography
KOÇ, G., DOĞANAY, S., DOĞAN, M. S., GÖRKEM, S., COŞKUN, A. (2017). Sonography in the Diagnosis of Congenital Adrenal Hyperplasia in a Neonate. Journal of Basic and Clinical Health Sciences, Cilt: 1 - Sayı: 1, 27–28. https://ajindex.com/articles/163568