University of Fribourg, Division of Endocrinology, Chemin du Musée 5, 1700, Fribourg, Switzerland.
Division of Pediatric Endocrinology and Diabetology, Switzerland; Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
Mol Cell Endocrinol. 2022 Aug 20;554:111710. doi: 10.1016/j.mce.2022.111710. Epub 2022 Jul 2.
Much is known about estrogen action in experimental animal models and in human physiology. This article reviews the mechanisms of estrogen activity in animals and humans and the role of its two receptors α and β in terms of structure and mechanisms of action in various tissues in health and in relationship with human pathologies (e.g., osteoporosis). Recently, the spectrum of clinical pictures of estrogen resistance caused by estrogen receptors gene variants has been widened by our description of a woman with β-receptor defect, which could be added to the already known descriptions of α-receptor defect in women and men and β-receptor defect in men. The essential role of the β-receptor in the development of the gonad stands out. We summarize the clinical pictures due to estrogen resistance in men and women and focus on long-term follow-up of two women, one with α- and the other with β-receptor resistance. Some open questions remain on the complex interactions between the two receptors on bone metabolism and hypothalamus-pituitary-gonadal axis, which need further deepening and research.
关于雌激素在实验动物模型和人类生理学中的作用，已有很多研究。本文综述了雌激素在动物和人体中的作用机制，以及其两个受体α和β在健康和与人类病理学（如骨质疏松症）相关的各种组织中的结构和作用机制。最近，我们描述了一名β受体缺陷的女性，拓宽了由雌激素受体基因突变引起的雌激素抵抗的临床症状谱，这可以补充已经描述的女性和男性的α受体缺陷以及男性的β受体缺陷。β受体在性腺发育中的重要作用突显出来。我们总结了男性和女性雌激素抵抗的临床症状，并重点关注了两名女性的长期随访情况，其中一名存在α受体抵抗，另一名存在β受体抵抗。关于两个受体在骨代谢和下丘脑-垂体-性腺轴之间的复杂相互作用，仍存在一些悬而未决的问题，需要进一步深入研究。
