Petersen K E, Svejgaard A, Nielsen M D, Dissing J
Horm Res. 1982;16(3):151-9. doi: 10.1159/000179496.
In a group of 18 unrelated Danish children with 21-hydroxylase deficiency (21-OH def.), human leukocyte antigen (HLA) typing revealed a significant increase of Bw47 and a significant decrease of B8. HLA studies of the families of 14 probands predicted among the siblings 11 heterozygote carriers and 3 genetically unaffected. Glyoxalase studies showed a recombination fraction of 8%. ACTH-stimulated 17-OH progesterone is the only hormone value useful in the discrimination between heterozygotes and normals. Two families are described in detail. In one family, one of two HLA-identical brothers had classical virilizing congenital adrenal hyperplasia (CAH), while the other was a normal boy without 21-OH def. In another family with 3 girls, one had classical, salt-wasting CAH, one had "late onset' CAH, and the third sister and the father shared the HLA-B14 antigen and were shown to have "cryptic' 21-OH def.
在一组18名患有21 - 羟化酶缺乏症（21 - OH def.）的无亲缘关系的丹麦儿童中，人类白细胞抗原（HLA）分型显示Bw47显著增加，B8显著减少。对14名先证者家庭的HLA研究预测，其兄弟姐妹中有11名杂合子携带者和3名基因未受影响者。乙二醛酶研究显示重组率为8%。促肾上腺皮质激素刺激后的17 - 羟孕酮是区分杂合子和正常人的唯一有用的激素值。详细描述了两个家庭。在一个家庭中，两个HLA相同的兄弟中，一个患有典型的男性化先天性肾上腺皮质增生症（CAH），而另一个是没有21 - OH def.的正常男孩。在另一个有3个女孩的家庭中，一个患有典型的失盐型CAH，一个患有“晚发型”CAH，第三个姐妹和父亲共享HLA - B14抗原，且被证明患有“隐匿性”21 - OH def.
