非经典型先天性肾上腺皮质增生症诊治现状

Present situation of the diagnosis and treatment of nonclassic congenital adrenal hyperplasia

非经典型先天性肾上腺皮质增生症(NCCAH)是常见的常染色体隐性遗传病。临床主要表现为阴毛早现、多毛、痤疮等高雄激素症状,但不同年龄、不同性别患者临床表现各异且复杂多样,诊断相对困难。促肾上腺皮质激素(ACTH)激发试验是诊断NCCAH的金标准,必要时可行基因诊断。儿童NCCAH的治疗强调个体化治疗,对早发育、阴毛进展快、骨龄超前者宜给予较小剂量糖皮质激素以控制雄激素水平、延缓骨龄快速进展。

Nonclassical congenital adrenal hyperplasia （NCCAH） is one of the most common autosomal recessive disor- ders, mainly presented with excessive adrogen, such as pubarche, hirsutism, acne, etc. However, the diagnostic ap- proach to NCCAH is difficuh because of variable clinical mani- festations with different age and gender. The golden standard for diagnosis is still ACTH stimulation test. Genotyping, as an adjunctive molecular test, is recommended if available. The treatment of NCCAH should be individualized. Children with NCCAH, who have inappropriately early onset or rapid progres- sion of pubarche or bone age, should be treated with low dose glucocorticoids to suppress adrenal hormones and prevent rap- id advancement of bone.