摘要
46，XX青春期原发性卵巢功能不全（primary ovarian insufficiency，POI）是指40岁以前卵巢活性丧失、染色体核型46，XX的一组综合征，属少见病（发病率低于1%，其中约2.5%为青春期患者）。主要临床特点是月经紊乱（闭经、月经稀发），生化特点为高促性腺激素性腺功能减退、低雌激素水平。46，XX POI病因复杂，包括遗传、自身免疫性、医源性等多种因素，大多数病因不明，一旦诊断明确，必须尽可能寻找原因。目前认为，自发性POI病因复杂，多有遗传学基础。随着分子生物学技术的发展，POI的病因诊断率有了显著提高。管理方面包括疾病教育、激素发育治疗、相关疾病治疗和预防等，需要多学科合作。
46, XX primary ovarian insufficiency（POI） is a clinical syndrome defined by loss of ovarian activity before the age of 40 years old with a karyotype 46, XX, characterized by menstrual disturbance （amenorrhea or oligomenorrhea） in association with hypergonadotropic hypogonadism.46, XX POI is a rare disease with the prevalence lower than 1%, of whom 2.5% are adolescents.Potential etiologies for 46, XX POI can be divided into genetic, autoimmune, and iatrogenic categories.Unfortunately, for most patients presenting with POI, the cause will remain unexplained.Once, POI is diagnosed, clinical indicated tests are needed to identify the mechanism causing POI.POI is a complex condition appearing with a strong genetic basis.Large-scale genomic sequencing had recently identified new mechanisms of POI.The management of the condition should address both of physical and emotional well-being health, including health education, hormone develoment treatment, prevention and treament of lower-estrogen associated diseases, with the support from a multidisciplinary team.
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2017年第8期570-573,共4页
Chinese Journal of Applied Clinical Pediatrics
