在青少年巨头的ERα和芳酶的作用
Richard J Santen1, Gulay Karaguzel2, Murat Livaoglu3
1Division of Endocrinology and Metabolism, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.
The Journal of clinical endocrinology and metabolism
|January 16, 2024
概括
青少年巨头可能是由雌激素受体α (ERα) 敏感性增加和通过芳酶增强局部雌激素生产引起的. 这些因素导致受影响个体的乳腺组织过度生长.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 青少年巨头是一种罕见的疾病,影响了大约150名报告的患者.
- 青少年巨头的潜在生物机制在很大程度上是未知的.
研究的目的:
- 调查导致青少年巨头的临床,生物化学,免疫化学和遗传因素.
- 在三个受影响的患者中识别致病生物学机制.
主要方法:
- 临床评估和阻断雌激素的合成/作用.
- 乳腺组织对雌激素受体α (ERα),芳酶,孕激素受体 (PgR) 和Ki67.7的免疫组合化学分析.
- 针对各种细胞周期和生长因子标记物的西斑分析.
- 受影响患者及其父母的全基因组测序.
主要成果:
- 免疫组织化学检测显示,与对照组相比,患者的导管性乳腺细胞中的ERα,芳酶,PGR和Ki67表达显著升高.
- 阻断雌激素的合成或作用证明了临床效应.
- 生物化学研究显示没有显著差异,可能是由于肌肉组织稀释.
- 遗传学研究发现了有趣的变异,但得不到结论.
结论:
- 升高的雌激素受体α (ERα) 表达增加了乳腺组织对雌激素的敏感性.
- 通过芳酶增强局部雌激素的产生与青少年巨头有关.
- 这些发现强调了ERα和芳香酶在这种疾病的发病过程中的关键作用.
相关概念视频
Signs of Puberty
356
Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...
356
Mitogens and the Cell Cycle
6.5K
Mitogens and their receptors play a crucial role in controlling the progression of the cell cycle. However, the loss of mitogenic control over cell division leads to tumor formation. Therefore, mitogens and mitogen receptors play an important role in cancer research. For instance, the epidermal growth factor (EGF) - a type of mitogen and its transmembrane receptor (EGFR), decides the fate of the cell's proliferation. When EGF binds to EGFR, a member of the ErbB family of tyrosine kinase...
6.5K
Gonadal and Placental Hormones
1.4K
The gonads, namely the testes in males and the ovaries in females, are pivotal in producing gonadal hormones that orchestrate the intricate processes of sexual development and reproduction.
In males, testosterone is the primary gonadal androgen. It plays a central role in the maturation of male reproductive organs — the penis and testes. Additionally, testosterone is instrumental in the development of secondary sexual characteristics — a deep voice as well as facial and pubic hair...
In males, testosterone is the primary gonadal androgen. It plays a central role in the maturation of male reproductive organs — the penis and testes. Additionally, testosterone is instrumental in the development of secondary sexual characteristics — a deep voice as well as facial and pubic hair...
1.4K
Hormones and Bone Tissue
2.7K
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
2.7K
Development of the Sexual Organs in the Embryo and Fetus
734
Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
734
TGF - β Signaling Pathway
7.4K
The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
7.4K


