Beck-Peccoz Paolo, Persani Luca
Dipartimento di Scienze Mediche, Università di Milano, IRCCS Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Via F, Sforza 35, 20122-Milano, Italia.
Orphanet J Rare Dis. 2006 Apr 6;1:9. doi: 10.1186/1750-1172-1-9.
Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). It is a heterogeneous disorder affecting approximately 1% of women <40 years, 1:10,000 women by age 20 and 1:1,000 women by age 30. The most severe forms present with absent pubertal development and primary amenorrhea (50% of these cases due to ovarian dysgenesis), whereas forms with post-pubertal onset are characterized by disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion. As in the case of physiological menopause, POF presents by typical manifestations of climacterium: infertility associated with palpitations, heat intolerance, flushes, anxiety, depression, fatigue. POF is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Beyond infertility, hormone defects may cause severe neurological, metabolic or cardiovascular consequences and lead to the early onset of osteoporosis. Heterogeneity of POF is also reflected by the variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. POF has a strong genetic component. X chromosome abnormalities (e.g. Turner syndrome) represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of the cases. Management includes substitution of the hormone defect by estrogen/progestin preparations. The only solution presently available for the fertility defect in women with absent follicular reserve is ovum donation.
卵巢早衰（POF）是一种原发性卵巢缺陷，其特征为初潮缺失（原发性闭经）或40岁之前卵巢卵泡过早耗竭（继发性闭经）。它是一种异质性疾病，影响约1%的40岁以下女性，20岁时发病率为1:10000，30岁时发病率为1:1000。最严重的形式表现为青春期发育缺失和原发性闭经（其中50%的病例归因于卵巢发育不全），而青春期后发病的形式则以与卵泡过早耗竭相关的月经周期消失（继发性闭经）为特征。与生理性绝经一样，POF表现为更年期的典型症状：与心悸、不耐热、潮热、焦虑、抑郁、疲劳相关的不孕。POF的生化特征是性腺激素（雌激素和抑制素）水平低，促性腺激素（LH和FSH）水平高（高促性腺激素性闭经）。除了不孕，激素缺陷可能导致严重的神经、代谢或心血管后果，并导致骨质疏松症的早发。POF的异质性也体现在多种可能的病因上，包括自身免疫、毒物、药物以及基因缺陷。POF具有很强的遗传成分。X染色体异常（如特纳综合征）是与卵巢发育不全相关的原发性闭经的主要原因。尽管描述了几个候选基因，但在绝大多数病例中，POF的病因仍未确定。治疗包括用雌激素/孕激素制剂替代激素缺陷。对于卵泡储备缺失的女性，目前唯一可用于解决生育缺陷的方法是卵子捐赠。
