Knorr D, Bidlingmaier F, Höller W, Kuhnle U, Meiler B, Nachmann A
Acta Endocrinol Suppl (Copenh). 1986;279:284-9. doi: 10.1530/acta.0.112s284.
We applied the ACTH-stimulation test developed in our laboratory for the detection of heterozygous carriers of the 21-hydroxylase deficiency gene to patients suffering from hirsutism (n = 89), premature pubarche (n = 75), early puberty (n = 37), and precocious puberty (n = 22). While, in the general population, this test is positive in less than 2%, we found in 33% of hirsute patients, in 41% of patients with premature pubarche, and in 33% of patients with early puberty a hormonal response similar to the one seen in heterozygous carriers for the 21-hydroxylase defect. In contrast, only 18% of patients with precocious puberty responded abnormally. Thus we speculate that, at least in some patients with hirsutism, premature pubarche, and early puberty, heterozygosity for the 21-hydroxylase defect plays a major role in the pathogenesis of these disorders.
我们将在本实验室开发的用于检测21-羟化酶缺乏基因杂合携带者的促肾上腺皮质激素（ACTH）刺激试验应用于多毛症患者（n = 89）、青春期早现患者（n = 75）、性早熟患者（n = 37）和青春期早熟患者（n = 22）。在一般人群中，该试验的阳性率低于2%，而我们发现，33%的多毛症患者、41%的青春期早现患者和33%的性早熟患者出现了与21-羟化酶缺陷杂合携带者相似的激素反应。相比之下，只有18%的青春期早熟患者有异常反应。因此我们推测，至少在一些多毛症、青春期早现和性早熟患者中，21-羟化酶缺陷的杂合性在这些疾病的发病机制中起主要作用。
