Levine L S, Dupont B, Lorenzen F, Pang S, Pollack M, Oberfield S E, Kohn B, Lerner A, Cacciari E, Mantero F, Cassio A, Scaroni C, Chiumello G, Rondanini G F, Gargantini L, Giovannelli G, Virdis R, Bartolotta E, Migliori C, Pintor C, Tato L, Barboni F, New M I
J Clin Endocrinol Metab. 1981 Dec;53(6):1193-8. doi: 10.1210/jcem-53-6-1193.
Cryptic 21-hydroxylase deficiency has been previously described in asymptomatic family members of patients with classical congenital adrenal hyperplasia (CAH). These family members were detected by high baseline 17-hydroxyprogesterone levels found in the course of family studies. The hormonal responses to ACTH of the family members with cryptic 21-hydroxylase deficiency were determined and compared to the responses of patients with CAH, patients with acquired adrenal hyperplasia, family members predicted to be heterozygous for CAH, family members predicted to be unaffected, and the general population. The ACTH-stimulated levels of 17-hydroxyprogesterone and delta 4-androstenedione in the cryptic family members were elevated above the level of the general population or family members heterozygous for classical CAH, but below that of patients with CAH. The hormonal profile of patients with cryptic 21-hydroxylase deficiency is similar to that of patients with acquired adrenal hyperplasia. The response of family members heterozygous for the cryptic gene (21-OH CRYPTIC/21-OH NORMAL) was indistinguishable from that of family members heterozygous for the classical CAH gene (21-OH CAH/21-OH NORMAL). These studies support our previous proposal that patients with cryptic 21-hydroxylase deficiency are genetic compounds, having one gene for a severe enzyme deficiency and one gene for a mild 21-hydroxylase deficiency. Thus, the 21-hydroxylase genotype in cryptic 21-hydroxylase deficiency is 21-OH CAH/21-OH CRYPTIC.
隐匿性21-羟化酶缺乏症此前已在经典型先天性肾上腺皮质增生症（CAH）患者的无症状家庭成员中被描述。这些家庭成员是在家族研究过程中通过高基线17-羟孕酮水平检测出来的。测定了隐匿性21-羟化酶缺乏症家庭成员对促肾上腺皮质激素（ACTH）的激素反应，并与CAH患者、获得性肾上腺皮质增生症患者、预计为CAH杂合子的家庭成员、预计未受影响的家庭成员以及普通人群的反应进行了比较。隐匿性家族成员中ACTH刺激后的17-羟孕酮和δ4-雄烯二酮水平高于普通人群或经典CAH杂合子家庭成员的水平，但低于CAH患者的水平。隐匿性21-羟化酶缺乏症患者的激素谱与获得性肾上腺皮质增生症患者相似。隐匿性基因杂合子家庭成员（21-OH CRYPTIC/21-OH NORMAL）的反应与经典CAH基因杂合子家庭成员（21-OH CAH/21-OH NORMAL）的反应没有区别。这些研究支持了我们之前的提议，即隐匿性21-羟化酶缺乏症患者是遗传复合个体，具有一个严重酶缺乏基因和一个轻度21-羟化酶缺乏基因。因此，隐匿性21-羟化酶缺乏症的21-羟化酶基因型为21-OH CAH/21-OH CRYPTIC。
