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首页> 外文期刊>Gynecological endocrinology: the official journal of the International Society of Gynecological Endocrinology >A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report
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A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report

机译：罕见的酶促缺陷，真正的17,20-裂解酶缺乏，导致内分泌疾病和不孕症：案例报告

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摘要

The cytochrome P450 17A1 catalyzes the formation of 17-hydroxysteroids and 17-ketosteroid. Most defects in CYP17A1 impair both enzymatic activities and cause a combined 17 alpha-hydroxylase/17,20-lyase deficiency, which impairs hormone production (cortisol and sex steroids), sexual development, and puberty. Isolated 17,20-lyase deficiency is usually defined by evidently normal activity of 17 alpha-hydroxylase with a dramatic decline of 17,20-lyase activity or complete inactivity. The changes in enzyme activity lead to a lack in the production of sex steroids with normal levels of glucocorticoid and mineralocorticoid hormones. A 24-years-old married woman, as a product of a consanguineous marriage, presented with infertility and a background marked by primary amenorrhea. Laboratory data showed low normal serum cortisol levels and low levels of 17-hydroxyprogesterone. Also, her adrenal androgens were low but estradiol was normal. The chromosomal investigation uncovered a male karyotype of 46, XY. These clinical and laboratory evidence confirm the determination of an isolated 17,20-lyase deficiency in a genotypic male.
机译：细胞色素P450 17A1催化形成17-羟基甾醇和17-酮类甾醇。 CYP17A1中大多数缺陷损害酶活性并导致组合的17个α-羟化酶/ 17,20-裂解酶缺乏，损害激素生产（皮质醇和性类固醇），性发展和青春期。分离的17,20-裂解酶缺乏通常通过明显正常的17α-羟化酶的正常活动定义，其具有急剧下降17,20-裂解酶活性或完全不活动。酶活性的变化导致性类固醇的生产缺乏正常水平的糖皮质激素和矿物质激素。一名24岁的已婚妇女作为近亲婚姻的产物，呈现不孕症和主要闭经标记的背景。实验室数据显示出低正常的血清皮质醇水平和低水平的17-羟丙基。此外，她的肾上腺雄激素低，但雌二醇是正常的。染色体调查发现了46，XY的男性核型。这些临床和实验室证据证实了测定基因型男性中的分离的17,20-裂解酶缺乏症。

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