LC- MS/ MS提高非典型性先天性肾上腺增生诊断可靠性在提高女性临床雄激素增多症诊断能力中的价值——简短交流

Kulvinder Kochar Kaur
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摘要

先天性肾上腺增生(CAH)是一种继发于肾上腺酶缺乏的疾病,最常见的是21羟化酶(21OH)以及人类最常见的常染色体隐性遗传病。在轻度非典型型(NCCAH)的情况下,正常数量的产生是以促肾上腺皮质激素的数量为代价的,而促肾上腺皮质激素的数量反过来又导致从童年到成年早期出现的临床高雄激素症。体征与症状与多囊卵巢综合征(PCOS)的显著相似。因此,NCCAH构成了一个重要的鉴别诊断,在情况下,妇女表现痤疮,多毛,月经异常以及不孕
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Value of Increasing the Reliability of Diagnosis of Nonclassical Congenital Adrenal Hyperplasia with Use of LC- MS/ MS in escalating the Diagnostic Capacity of Women with Clinical hyperandrogenism-A Short Communication
Congenital adrenal hyperplasia (CAH) represents a disorder that takes place secondary to the deficiency of the adrenal enzymes, most commonly 21 hydroxylases (21OH) along with the commonest autosomal recessive condition in humans. In case of milder non canonical type (NCCAH), normal quantities are generated at the cost of adrenocorticotropic hormone quantities that in turn results in Clinical hyperandrogenism that gets presented from childhood via early adult period. A remarkable resemblance of signs along with symptoms with those of Polycystic ovary syndrome (PCOS). Hence NCCAH constitutes a significant differential diagnosis, in case of women manifesting acne, hirsutism, menstrual aberrations along with infertility
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