Division of Pediatric Endocrinology, Division of Genetics and Genomic Sciences, Mount Sinai Hospital, New York, New York.
Division of Endocrinology, Diabetology and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy.
Fertil Steril. 2019 Jan;111(1):13-20. doi: 10.1016/j.fertnstert.2018.11.023.
Nonclassical congenital adrenal hyperplasia (NC-CAH) is by far a subtler and milder enzymatic defect to the classical form of the disease. A nuanced understanding of NC-CAH will lead to increased detection of the disorder in those initially misdiagnosed as having polycystic ovary syndrome, will assist in the detection of pregnancies at risk for severe genetic steroid disorders, and will facilitate appropriate ovulation induction and reduction in the hyperandrogenic symptoms which are a cornerstone of the disease. We describe the history of the disease as well as elucidate the pathophysiology, diagnosis, and treatment of the disorder.
非经典型先天性肾上腺皮质增生症（NC-CAH）与经典型疾病相比，是一种更为微妙和轻微的酶缺陷。对 NC-CAH 的细致理解将导致那些最初被误诊为多囊卵巢综合征的患者的疾病检出率增加，有助于检测有严重遗传类固醇疾病风险的妊娠，并促进适当的排卵诱导和减少疾病的标志性高雄性激素症状。我们描述了该疾病的历史，并阐明了其病理生理学、诊断和治疗。
