过早的卵巢功能不充分
Philippe Touraine1,2, Nathalie Chabbert-Buffet3,4, Genevieve Plu-Bureau5,6
1Department of Endocrinology and Reproductive Medicine, AP-HP Pitié Salpêtrière Hospital, Sorbonne Université Médecine, Paris, France. philippe.touraine@aphp.fr.
Nature reviews. Disease primers
|September 12, 2024
概括
过早卵巢衰竭 (POI) 在40岁之前影响100分之一的女性. 基因研究对于理解和治疗这种不孕症和内分泌功能障碍的原因至关重要.
科学领域:
- 生殖内分泌学 生殖内分泌学
- 遗传学 遗传学 是一个
- 不孕症研究 不孕症研究
背景情况:
- 过早卵巢衰竭 (POI) 的特点是40岁前卵巢功能丧失,导致不孕症和内分泌功能障碍.
- 在临床上,POI表现为缺血症和卵泡刺激激素水平升高.
- 原因包括医疗干预,遗传因素,自身免疫性疾病和染色体异常,影响至少100分之一的女性.
研究的目的:
- 突出早期卵巢缺陷 (POI) 的遗传基础.
- 强调基因诊断在识别家族POI和使卵子细胞保存方面的重要性.
- 强调遗传研究在阐明疾病机制方面的作用,以改善治疗开发.
主要方法:
- 对POI遗传基础的现有证据的审查.
- 分析使用基因检测的诊断方法.
- 讨论过去十年来了解POI相关基因的进展.
主要成果:
- 实质性证据表明POI有着显著的遗传贡献.
- 基因方法对于诊断家族病例和促进生育保存选择至关重要.
- 发现基因变异是了解异常性POI的关键,在许多患者中仍然无法解释.
结论:
- 遗传因素在过早卵巢缺陷的病因学中起着关键作用.
- 遗传诊断为早期识别,计划生育和潜在的生育保护提供了途径.
- 持续的基因研究对于促进POI的理解和治疗至关重要.
相关概念视频
Oogenesis
63.5K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.5K
Infertility in Females
288
Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of...
Endometriosis, a condition characterized by abnormal growth of...
288
Menopause
146
Menopause, a natural biological process marking the end of a woman's fertility, typically occurs between the fifth and sixth decade of life. This phase is characterized by the exhaustion of the ovarian follicle pool, leading to less responsive ovaries despite the high levels of Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH). The consequential decrease in estrogen production results in symptoms like hot flashes, heavy sweating, headaches, hair loss, muscle pains, vaginal...
146
Ovarian Cycle
1.1K
The menstrual cycle includes a critical component known as the ovarian cycle, which undergoes two main phases each month—the follicular phase and the luteal phase. The follicular phase is variable and averaging around 14 days. Ovulation, triggered by a surge in luteinizing hormone (LH), marks the transition between the two phases. The second phase, the luteal phase, is relatively consistent, lasting approximately 14 days, and is marked by the activity of the corpus luteum. While a cycle...
1.1K
Hormonal Control of the Ovarian Cycle
441
The ovarian cycle is meticulously regulated by the hypothalamic-pituitary-gonadal axis. This cycle orchestrates the release of a mature oocyte, essential for reproduction.
Before puberty, the hypothalamus releases GnRH in a low frequency, low amplitude pulsatile manner. This along with the immature hypothalamic-pituitary-gonadal axis activity, results in low estrogen levels and the absence of a fully functional ovarian cycle. At puberty, GnRH secretion increases in both frequency and...
Before puberty, the hypothalamus releases GnRH in a low frequency, low amplitude pulsatile manner. This along with the immature hypothalamic-pituitary-gonadal axis activity, results in low estrogen levels and the absence of a fully functional ovarian cycle. At puberty, GnRH secretion increases in both frequency and...
441
Disorders of the Female Reproductive System
336
The female reproductive system can be affected by several disorders, including Premenstrual Syndrome (PMS), Premenstrual Dysphoric Disorder (PMDD), endometriosis, and various forms of cancer. PMS and PMDD are cyclical conditions that cause physical and emotional distress, with symptoms that include edema, mood swings, and food cravings. PMDD is a more severe form of PMS characterized by increased symptom severity that peaks during the luteal phase and tends to improve or resolve shortly after...
336


