先天性肾上腺皮质增生症(congenital adrenal hyperplasia, CAH)是因肾上腺皮质类固醇激素合成过程中酶的缺陷而引起的一组疾病,为常染色体隐性遗传性疾病,临床以21-羟化酶缺乏症最常见。生理情况下,肾上腺皮质利用胆固醇合成皮质醇、醛固酮及睾酮,该过程需要多个酶的参与,如基因突变而导致某个酶的缺陷,则会引起不同程度的皮质激素减少而前体物质堆积。当皮质醇合成减少时,其对腺垂体的抑制作用减弱、ACTH分泌过多,后者刺激肾上腺皮质增生。临床表现取决于酶缺陷的种类及程度。若酶完全缺乏则相应激素分泌绝对不足,不及时治疗可导致死亡。若酶缺乏不完全,肾上腺仍能合成一定量的皮质激素,首发症状可在15岁以后出现,称为晚发型。先天性肾上腺皮质增生常因下列酶缺乏所致:21-羟化酶(P450c21)、11β-羟化酶(P450c11)、3β-羟类固醇脱氢酶(3β-HSD)、17α-羟化酶(P450c17)、胆固醇侧链裂解酶(P450 choles-terol side-chain cleavage enzyme, P450scc)及类固醇合成快速调节蛋白(steroidogenic acute regulatory protein, StAR)。近年来临床对CAH的认知度逐渐提高,本文就笔者在临床中遇到的一例晚发型先天性肾上腺皮质增生症(11-β羟化酶缺乏)患者,该型较为少见,所以为了加深临床对于11-β羟化酶缺乏的晚发型先天性肾上腺皮质增生症的了解,笔者对病例进行回顾性分析并进行相关文献复习,旨在为临床工作者提供相关诊断经验,提高临床医生对于CAH的认知水平与了解。Congenital adrenal hyperplasia (CAH) is a group of diseases caused by defects in enzymes during the process of adrenal cortex steroid hormone synthesis, which is an autosomal recessive genetic disorder. Clinically, deficiency of 21-hydroxylase is the most common. Physiologically, the adrenal cortex uses cholesterol to synthesize cortisol, aldosterone, and testosterone, a process that requires the involvement of multiple enzymes. If a gene mutation leads to a defect in a certain enzyme, it will result in varying degrees of reduced corticosteroid levels and accumulation of precursor substances. When cortisol synthesis decreases, its inhibitory effect on the pituitary gland weakens, leading to excessive ACTH secretion, which in turn stimulates the adrenal cortex hypertrophy. Clinical manifestations depend on the type and severity of the enzyme defect. If an enzyme is completely lacking, the corresponding hormone secretion is absolutely insufficient, and untreated cases can lead to death. If the enzyme is lacking incomplete, the adrenal glands can still produce a certain amount of cortical hormones, and the first symptoms may appear after the age of 15, known as late-onset. Congenital adrenal hyperplasia is often caused by deficiencies in the following enzymes: 21-hydroxylase (P450c21), 1
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