Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to pathogenic variants in genes encoding enzymes and cofactors involved in adrenal steroidogenesis. Although 21-hydroxylase, 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase type 2, 17α-hydroxylase/17,20-lyase, P450 oxidoreductase, steroidogenic acute regulatory protein, cholesterol side-chain cleavage enzyme deficiencies are considered within the definition of CAH, the term ‘CAH’ is often used to refer to ‘21-hydroxylase deficiency (21OHD)’ since 21OHD accounts for approximately 95% of CAH in most populations. The prevalence of the rare forms of CAH varies according to ethnicity and geographical location. In most cases, the biochemical fingerprint of impaired steroidogenesis points to the specific subtypes of CAH, and genetic testing is usually required to confirm the diagnosis. Despite there are significant variations in clinical characteristics and management, most data about the rare CAH forms are extrapolated from 21OHD. This review article aims to collate the currently available data about the diagnosis and the management of rare forms of CAH.

中文翻译：

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罕见的先天性肾上腺增生症

先天性肾上腺增生症 (CAH) 是一组常染色体隐性遗传疾病，由编码参与肾上腺类固醇生成的酶和辅因子的基因发生致病性变异所致。尽管 CAH 的定义中考虑了 21-羟化酶、11β-羟化酶、3β-羟基类固醇脱氢酶 2 型、17α-羟化酶/17,20-裂解酶、P450 氧化还原酶、类固醇生成急性调节蛋白、胆固醇侧链裂解酶缺陷，但术语“CAH”通常用来指“21-羟化酶缺乏症 (21OHD)”，因为在大多数人群中，21OHD 约占 CAH 的 95%。罕见形式 CAH 的患病率因种族和地理位置而异。在大多数情况下，类固醇生成受损的生化指纹指向 CAH 的特定亚型，通常需要进行基因检测来确认诊断。尽管临床特征和治疗存在显着差异，但有关罕见 CAH 形式的大多数数据都是从 21OHD 推断出来的。这篇综述文章旨在整理有关罕见 CAH 的诊断和治疗的当前可用数据。