Bondy C A, Nelson L M, Kalantaridou S N
Section on Women's Health, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
J Womens Health. 1998 Dec;7(10):1225-9. doi: 10.1089/jwh.1998.7.1225.
Premature ovarian failure (POF) is a condition characterized by cessation of ovarian function before the age of 40. The recent meeting at the National Institute of Child Health and Human Development brought together experts from diverse disciplines to share current perspectives on the genetic and physiologic origins of POF, with the idea that insights gained from these studies may provide important clues about the regulation of normal ovarian aging and perhaps aging processes in general. It was suggested that several murine genes, including Zfx, c = kit, and the kit ligand, should be fertile candidates for investigation of the etiology of POF in human families. The specific roles of the human DIA and FMR1 gene products in germ cell development need clarification in murine models, and there are more as yet unidentified genes residing on the long arm of the X chromosome that are also implicated in the regulation of human ovarian function. Genes acting at later stages of oocyte or ovarian follicle function, such as gonadotropin hormones and receptors, are responsible for POF in some women. POF has been found to be a heterogeneous disorder, the dissection of which offers promising insights into mechanisms governing germ cell origination, migration, and proliferation, meiotic mechanisms, and factors governing oocyte maturation and survival.
卵巢早衰（POF）是一种在40岁之前卵巢功能停止的病症。美国国立儿童健康与人类发展研究所最近召开的会议汇聚了来自不同学科的专家，以分享关于POF遗传和生理起源的当前观点，认为从这些研究中获得的见解可能为正常卵巢衰老以及可能的一般衰老过程的调节提供重要线索。有人提出，包括Zfx、c-kit和kit配体在内的几个小鼠基因，应该是研究人类家族中POF病因的合适候选基因。人类DIA和FMR1基因产物在生殖细胞发育中的具体作用需要在小鼠模型中加以阐明，并且在X染色体长臂上还有更多尚未鉴定的基因也与人类卵巢功能的调节有关。作用于卵母细胞或卵巢卵泡功能后期的基因，如促性腺激素及其受体，在一些女性中是导致POF的原因。已发现POF是一种异质性疾病，对其剖析有望深入了解控制生殖细胞起源、迁移和增殖的机制、减数分裂机制以及控制卵母细胞成熟和存活的因素。
