Effect of testosterone and estradiol in a man with aromatase deficiency
Effect of testosterone and estradiol in a man with aromatase deficiency
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DOI：
10.1056/nejm199707103370204
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发表时间：
1997-07-10
影响因子：
158.5
通讯作者：
Simpson, ER
中科院分区：
文献类型：
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作者：
Carani, C;Qin, K;Simpson, ER
最近有关雌激素受体或细胞色素 P-450 芳香酶 1-6 基因破坏性突变的报道为雌激素的作用提供了新的线索。在女性中，由于芳香酶缺乏而导致雌激素缺乏，导致青春期出现假两性畸形和进行性男性化，而男性的青春期发育是正常的。在两性的成员中，骨骺闭合延迟，导致太监习性，并且存在骨质减少。6这些发现表明雌激素在骨骼成熟中起着至关重要的作用。1-6我们描述了具有新型纯合失活突变的男性对雄激素和雌激素的反应。 。 。
Recent reports of disruptive mutations of the genes for the estrogen receptor or for cytochrome P-450 aromatase1–6have shed new light on the role of estrogen. In females the lack of estrogen due to aromatase deficiency leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal development is normal. In members of both sexes epiphyseal closure is delayed, resulting in a eunuchoid habitus, and osteopenia is present.6These findings suggest a crucial role of estrogen in skeletal maturation.1–6We describe the responses to androgen and estrogen in a man with a novel, homozygous inactivating mutation of . . .