Kohn B, Levine L S, Pollack M S, Pang S, Lorenzen F, Levy D, Lerner A J, Rondanini G F, Dupont B, New M I
J Clin Endocrinol Metab. 1982 Nov;55(5):817-27. doi: 10.1210/jcem-55-5-817.
Hormonal studies and human leukocyte antigen (HLA) genotyping were performed in 5 males and 13 females who were demonstrated to have 21-hydroxylase deficiency. The enzymatic deficiency of steroidogenesis was detected by family studies of 10 females who presented with varying symptoms of androgen excess. The 10 index cases had normal genitalia at birth, but virilized to varying degrees postnatally. The additional 8 affected family members had not sought medical care, but some were found to have signs of virilization on physical examination, while others were normal. Thus both late-onset (symptomatic) and cryptic asymptomatic) 21-hydroxylase deficiency occurred in the same pedigree. The hormonal and genetic linkage studies indicate that the late-onset (symptomatic) form of 21-hydroxylase deficiency, like the cryptic (asymptomatic) and classical forms of 21-hydroxylase deficiency, is transmitted by an autosomal recessive gene which is linked to HLA-B. Furthermore, the classical form of 21-hydroxylase deficiency associated with prenatal virilization is transmitted by an allelic variant for steroid 21-hydroxylase different from that of the nonclassical forms, late-onset (symptomatic) and cryptic (asymptomatic) 21-hydroxylase deficiency. Although these latter 2 disorders have different clinical manifestations, they demonstrate a similar degree of steroid 21-hydroxylase deficiency that is less severe than that observed in classical 21-hydroxylase deficiency. The hormonal and genetic linkage data indicate that cryptic (asymptomatic) and late-onset (symptomatic) 21-hydroxylase deficiency result from the same allelic variant at the steroid 21-hydroxylase locus. A glossary of terms is presented to describe the various allelic forms of 21-hydroxylase deficiency with consistency.
对5名男性和13名被证实患有21-羟化酶缺乏症的女性进行了激素研究和人类白细胞抗原（HLA）基因分型。通过对10名出现不同程度雄激素过多症状的女性进行家系研究，检测到了类固醇生成的酶缺乏。这10例索引病例出生时生殖器正常，但出生后不同程度地出现男性化。另外8名受影响的家庭成员未寻求医疗护理，但一些人在体格检查中发现有男性化体征，而其他人则正常。因此，迟发性（有症状）和隐匿性（无症状）21-羟化酶缺乏症发生在同一谱系中。激素和基因连锁研究表明，迟发性（有症状）形式的21-羟化酶缺乏症，与隐匿性（无症状）和经典形式的21-羟化酶缺乏症一样，是由与HLA-B连锁的常染色体隐性基因传递的。此外，与产前男性化相关的经典形式的21-羟化酶缺乏症是由一种与非经典形式、迟发性（有症状）和隐匿性（无症状）21-羟化酶缺乏症不同的类固醇21-羟化酶等位基因变体传递的。尽管后两种疾病有不同的临床表现，但它们表现出相似程度的类固醇21-羟化酶缺乏，比经典21-羟化酶缺乏症中观察到的程度要轻。激素和基因连锁数据表明，隐匿性（无症状）和迟发性（有症状）21-羟化酶缺乏症是由类固醇21-羟化酶基因座上的同一等位基因变体引起的。本文提供了一个术语表，以一致地描述21-羟化酶缺乏症的各种等位基因形式。
