Roitman A, Stivel M, Zamir R, Kaufman H, Pertzelan A, Laron Z
Isr J Med Sci. 1982 Jul;18(7):763-8.
It was recently proposed that congenital and late-onset 21-hydroxylase deficiency are caused by two distinct recessive allelic genes. Although both genes are associated with the HLA system, only the late-onset type was found to be linked with the antigens B14 and DR1. Biochemical and immunological studies were conducted in two families with children suffering from 21-hydroxylase deficiency of postnatal onset. In the first family, of Jewish Ashkenazic origin, a 2 1/2-yr-old girl presenting with clitoromegaly was found to be homozygous for the antigens B14 and DR1. In the second family, of Arabic origin, all the children, their parents and a paternal aunt were clinically and/or biochemically affected, carrying the B14, but not the DR1 antigen on one or both HLA haplotypes. These data suggest that some cases of simple virilizing 21-hydroxylase deficiency in childhood are related to the late-onset type of 21-hydroxylase deficiency.
最近有人提出，先天性和迟发性21-羟化酶缺乏症是由两个不同的隐性等位基因引起的。尽管这两个基因都与HLA系统相关，但仅发现迟发性类型与抗原B14和DR1相关。对两个患有产后发作的21-羟化酶缺乏症儿童的家庭进行了生化和免疫学研究。在第一个来自阿什肯纳兹犹太血统的家庭中，发现一名患有阴蒂肥大的2岁半女孩是抗原B14和DR1的纯合子。在第二个来自阿拉伯血统的家庭中，所有儿童、他们的父母和一位姑姑在临床和/或生化方面均受到影响，在一个或两个HLA单倍型上携带B14抗原，但不携带DR1抗原。这些数据表明，儿童期某些单纯男性化型21-羟化酶缺乏症病例与迟发性21-羟化酶缺乏症类型有关。
