Résistance aux estrogènes et déficit en aromatase chez l’Homme

Cesare Carani, Matteo Fabbi, Lucia Zirilli, Ilaria Sgarbi
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引用次数: 2

Abstract

The primordial role of estrogens in female reproductive function is well known. The recent production of transgenic mice deficient in estrogen receptors (ERKO) or in aromatase (ArKO) and the discovery in man of inactivating mutations of the corresponding genes (ER) have contributed to the understanding of the role of estrogens in metabolic processes in female as well as male. To date 8 well documented cases (5 women and 3 men) of congenital deficiencies in estrogens have been reported. As mice deficient in ERa had been previously described, these cases definitely proved that estrogen absence was compatible with survival and disproved the "lethality concept" previously held because the role of estrogens in implantation and gestation maintenance. ERKO mice are phenotypically normal though sterile, but their bone density is lower (20-25%) than that of controls. Similarly, men with no aromatase or no ER display continuous growth, osteoporosis and also (but not necessarily) alterations in testicular functions. How much do primordial functions such as bone development, control of gonadotrophin secretion and lipid metabolism depend on estrogens? These interrogations, elegantly clarified following testosterone and estradiol treatment in an aromatase deficient man are considered in this present synthesis.
男性雌激素抵抗和芳香化酶缺乏
雌激素在女性生殖功能中的首要作用是众所周知的。最近生产的雌激素受体(ERKO)或芳香化酶(ArKO)缺乏的转基因小鼠,以及在男性中发现的相应基因(ER)失活突变,有助于了解雌激素在女性和男性代谢过程中的作用。迄今为止,已报告了8例有充分记录的先天性雌激素缺乏病例(5名妇女和3名男子)。由于先前有小鼠ERa缺乏的描述,这些病例明确证明了雌激素缺乏与存活是相容的,并推翻了先前因雌激素在着床和妊娠维持中的作用而持有的“致命性概念”。ERKO小鼠虽然不育,但表型正常,但骨密度低于对照组(20-25%)。同样,没有芳香化酶或没有内质网的男性表现出持续的生长、骨质疏松和睾丸功能的改变(但不一定)。骨骼发育、控制促性腺激素分泌和脂质代谢等原始功能在多大程度上依赖于雌激素?这些疑问,优雅地澄清后,睾酮和雌二醇治疗芳香酶缺乏的人是考虑在目前的合成。
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