Hernanz-Schulman Marta, Brock John W, Russell William
Department of Radiology, The Children's Hospital, Vanderbilt University Medical Center, 21st Avenue and Garland Street, Nashville, TN 37215, USA.
Pediatr Radiol. 2002 Feb;32(2):130-7. doi: 10.1007/s00247-001-0592-4. Epub 2001 Nov 29.
Congenital adrenal hyperplasia (CAH) results from several autosomal recessive errors in adrenal steroidogenesis, leading to masculinization of female fetuses and potential salt-losing crises in male and female infants. Definitive diagnosis of CAH is made with biochemical studies, but results are not immediately available. Our purpose is to assess the utility of sonography in the accurate diagnosis of CAH.
Sixteen patients with diagnosis of adrenogenital syndrome or ambiguous genitalia from January 1990 to January 1998 were identified: 9 patients with CAH, 7 patients without CAH who served as controls. Prospective sonographic diagnoses were correlated with biochemical diagnoses.
Of the 16 patients, 8 had prospectively enlarged adrenal glands, subsequently shown to have CAH due to 21-hydroxylase or 11beta-hydroxylase deficiency. Adrenals were normal in a pretreated infant, and in available follow-up scans. The seven patients without CAH had prospectively normal adrenal ultrasounds.
These data support the premise that sonography can be utilized as a rapid and accurate diagnostic tool in infants suspected of congenital adrenal hyperplasia.
先天性肾上腺皮质增生症（CAH）是由肾上腺类固醇生成过程中的几种常染色体隐性错误引起的，导致女性胎儿男性化以及男婴和女婴出现潜在的失盐危象。CAH的确诊需通过生化研究，但结果不能立即获得。我们的目的是评估超声检查在CAH准确诊断中的效用。
确定了1990年1月至1998年1月期间诊断为肾上腺性征异常综合征或生殖器模糊的16例患者：9例CAH患者，7例无CAH的患者作为对照。前瞻性超声诊断与生化诊断相关。
16例患者中，8例前瞻性肾上腺增大，随后显示因21-羟化酶或11β-羟化酶缺乏而患有CAH。在一名接受治疗的婴儿以及可用的随访扫描中，肾上腺正常。7例无CAH的患者前瞻性肾上腺超声检查正常。
这些数据支持这样一个前提，即超声检查可作为怀疑患有先天性肾上腺皮质增生症婴儿的快速准确诊断工具。
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