摘要
17α-羟化酶缺陷症(17α-OHD)是先天性肾上腺皮质增生症(CAH)的一种罕见类型,很容易漏诊和误诊。17α-OHD是一种常染色体隐性遗传性疾病,可导致糖皮质激素合成减少,促肾上腺皮质激素增多;性腺激素合成减少,而促性腺激素反馈性增高,同时可伴有盐皮质激素水平的升高。对该疾病的早期诊断非常重要,早期诊断并予以激素替代治疗对提高患者生活质量有很大帮助。现报道2例我科17α-OHD的诊治经过,以提高对本病的认识。
17α-hydroxylase deficiency （17α-OHD） is a rare form of congenital adrenal hyperplasia （CAH）, which can be easily missed diagnosis and misdiagnosis. It is an autosomal recessive defect, the plasma eortieotrophin levels were elevated, and the levels of cortisol were less than the normal. The levels of estradiol and testosterone were decreased, and the follicule-stimulating hormone and luteinizing hormone were elevated with concomitant mineraloeorticoid excess. Early accurate diagnosis is very important, so that hormone replacement therapy can be implemented. Here we report two cases of 17α-OHD,in order to raise our awareness of this rare disease.
出处
《医学与哲学（B）》
2014年第6期68-69,88,共3页
Medicine & Philosophy(B)
