Pollack M S, Levine L S, O'Neill G J, Pang S, Lorenzen F, Kohn B, Rondanini G F, Chiumello G, New M I, Dupont B
Am J Hum Genet. 1981 Jul;33(4):540-50.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) has been established to be an HLA-linked, recessive monogenetic disease. However, two nonclassical forms of 21-OH-def have also been described: "cryptic" 21-OH-def, which has been shown to be HLA-linked, and "late onset" 21-OH-def, for which the status of linkage to HLA has been less certain. We now describe studies of eight additional unrelated probands with symptomatic, "late onset" 21-OH-def, and conclude that this form is also HLA-linked. Both "late onset" and "cryptic" 21-OH-def are highly associated with the same HLA antigens and markers (HLA-B14, HLA-DR1, and Bf type S) in individuals from different ethnic and geographical backgrounds. Since both "late onset" and "cryptic" 21-OH-def appear to occur in individuals with one classical 21-OH-def (21-OHCAH) allele who in addition have another 21-OH-def allele, as well as in individuals who appear to be homozygous for variant 21-PH-def alleles, and since both late onset and cryptic 21-OH-def appear to occur in the same families, our data suggest that these syndromes may represent different clinical expressions of similar or identical nonclassical 21-OH-def alleles.
因21-羟化酶缺乏（21-OH-def）导致的经典型先天性肾上腺皮质增生症已被确认为一种与HLA相关的隐性单基因疾病。然而，也有两种非经典形式的21-OH-def被描述：“隐匿性”21-OH-def，已证明与HLA相关；以及“迟发型”21-OH-def，其与HLA的连锁状态尚不确定。我们现在描述了另外8例有症状的“迟发型”21-OH-def无关先证者的研究，并得出结论，这种形式也与HLA相关。在来自不同种族和地理背景的个体中，“迟发型”和“隐匿性”21-OH-def均与相同的HLA抗原和标记物（HLA-B14、HLA-DR1和Bf S型）高度相关。由于“迟发型”和“隐匿性”21-OH-def似乎都发生在具有一个经典21-OH-def（21-OHCAH）等位基因且另有一个21-OH-def等位基因的个体中，以及似乎对变异21-PH-def等位基因纯合的个体中，并且由于迟发型和隐匿性21-OH-def似乎发生在同一个家族中，我们的数据表明，这些综合征可能代表相似或相同的非经典21-OH-def等位基因的不同临床表型。
