Sonography in the Diagnosis of Congenital Adrenal Hyperplasia in a Neonate

Year 2017, Volume: 1 Issue: 1, 27 - 28, 01.03.2017

Gonca Koç Selim Doğanay Mehmet Sait Doğan Süreyya Görkem Abdulhakim Coşkun

https://doi.org/10.5152/jbachs.2017.68

https://izlik.org/JA63PY69LD

Abstract

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

Keywords

Congenital adrenal hyperplasia , 21-hydroxylase deficiency , ultrasonography

References

• Coombs CM, Kirk AS, eds (McMillan JA, advisor). Oski’s Pediatric Certification and Recertification Board Review. Philadelphia: LW&W, 2011: 268, 630.
• Fritz MA, Speroff L. Normal and abnormal sexual development. In: Speroff L, Fritz MA, eds. Clinical Gynecologic Endocrinology and In- fertility. 8th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2011: 9.
• Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI. Con- genital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol 1999; 69:19-29. [CrossRef]
• Sivit CJ, Hung W, Taylor GA, Catena LM, Brown-Jones C, Kushner DC. Sonography in neonatal congenital adrenal hyperplasia. AJR Am J Roentgenol 1991; 156:141-143. [CrossRef]
• Avni EF, Rypens F, Smet MH, Galetty E. Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol 1993; 23:88-90. [CrossRef] 28