Update on 46,XX primary ovarian insufficiency in adolescents

VernacularTitle:46,XX青春期原发性卵巢功能不全诊治进展
Author: Huamei MA
Keywords: Primary ovarian insufficiency; Fragile X syndrome; Autoimmune lymphocytic oophoritis
From: Chinese Journal of Applied Clinical Pediatrics 2017;32(8):570-573
CountryChina
Language:Chinese
Abstract: 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.