Department of Dermatology, University of Palermo, Palermo, Italy.
Dermatology. 2010;220(2):121-7. doi: 10.1159/000277608. Epub 2010 Jan 29.
Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90-95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene (CYP21) has a high degree of variability.
This study was conducted to evaluate CYP21 gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism.
30 out of 61 women enrolled underwent pelvic ultrasound examination and hormonal screening. In 9 patients with a polycystic ovary and hormonal pattern of adrenal hyperandrogenism a significant elevation of adrenocorticotropic hormone (ACTH) stimulated 17-hydroxyprogesterone was detected. These women positive in the ACTH stimulation test were submitted to CYP21 gene analysis.
Genetic testing revealed several different point mutations and demonstrated that a cohort of patients resistant to acne therapy can be carriers or affected by non-classical 21-OHD (late onset).
Persistent acne can be the unique presenting sign of non-classical 21-OHD. Evaluation of CYP21 gene mutations may identify female carriers or patients for genetic counselling.
当痤疮伴有多毛症和月经不规律时，怀疑女性雄激素产生过多，可能是由于先天性肾上腺增生。这种皮质醇生物合成的遗传性疾病，在超过 90-95%的病例中是由于 21-羟化酶缺乏（21-OHD）引起的。甾体 21-羟化酶基因（CYP21）具有高度的可变性。
本研究旨在评估一组患有丘疹脓疱性和粉刺性痤疮、月经不规律和多毛症的女性的 CYP21 基因突变。
61 名入组患者中有 30 名接受了盆腔超声检查和激素筛查。在 9 名患有多囊卵巢和肾上腺雄激素过多的激素模式的患者中，发现促肾上腺皮质激素（ACTH）刺激 17-羟孕酮显著升高。这些 ACTH 刺激试验阳性的患者接受了 CYP21 基因分析。
基因检测显示出几种不同的点突变，并表明一组对痤疮治疗有抗性的患者可能是携带者或患有非经典 21-OHD（迟发性）。
持续性痤疮可能是 21-OHD 非经典型的唯一表现。CYP21 基因突变的评估可以识别女性携带者或需要遗传咨询的患者。
