Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
复制标题
DOI：
10.1055/s-2006-924072
复制
发表时间：
2006-04-01
影响因子：
1.8
通讯作者：
Schulze, E.
中科院分区：
文献类型：
--
作者：
Muessig, K.;Kaltenbach, S.;Schulze, E.
百分之九十以上的先天性肾上腺增生症是由 21-羟化酶缺乏引起的。 21-羟化酶缺乏症的经典形式出现在新生儿期，伴有男性化或肾上腺功能不全，伴有或不伴有盐消耗。我们报告了一个在成年晚期诊断出的典型 21-羟化酶缺乏症的罕见病例。一名 39 岁的患者因不孕症前来接受检查。泌尿系统检查发现小睾丸、双侧睾丸肿块和弱精子症。患者的类固醇代谢显示肾上腺雄激素水平显着升高，特别是 17-羟基孕酮和 21-脱氧皮质醇。气相色谱-质谱 (GC-MS) 尿类固醇谱主要是 17-羟基孕酮的代谢物，而内源性糖皮质激素的产生量低于正常水平。血浆中 ACTH 水平升高。这些激素研究结果与 21-羟化酶缺乏症一致。开始使用地塞米松治疗。 CYP21A2 基因分析显示等位基因 1 的外显子 4 存在突变 I172N (ATC -> AAC)，等位基因 2 存在大基因缺失。在成年晚期诊断出 21-羟化酶缺乏症的病例很少见；然而，临床医生应该警惕这种可能性。
Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a rare case of classic 21-hydroxylase deficiency diagnosed in late adulthood. A 39-year-old mate patient presented for workup of infertility. Urologic investigation revealed small testes, bilateral testicular masses, and astheno-zoospermia. The patient's steroid metabolism showed markedly increased levels of adrenal androgens, in particular of 17-hydroxyprogesterone and 21-deoxycortisol. The gas chromatographic-mass spectrometric (GC-MS) urinary steroid profile was dominated by metabolites of 17-hydroxyprogesterone, while the endogenous glucocorticoid production was subnormally low. ACTH levels in plasma were elevated. These hormonal findings were consistent with 21-hydroxylase deficiency. Therapy with dexamethasone was initiated. The CYP21A2 gene analysis revealed the mutation I172N (ATC -> AAC) in exon 4 of allele 1 and a large gene deletion in allele 2. Cases of 21-hydroxylase deficiency diagnosed in late adulthood are rare; however, clinicians should be alert of this possibility.