title: Update on primary ovarian insufficiency in adolescents.
abstract: OBJECTIVE
  We provide an overview of new insights into the genetic causes of primary ovarian insufficiency (POI) and address the challenges faced by clinicians who care for adolescents with this condition.
  
  
  RESULTS
  In most cases, the cause of POI remains a mystery after appropriate clinical testing has been completed. Large-scale genomic sequencing approaches are uncovering new mechanisms underlying the disorder. Gene variants that affect the normal processes of primordial germ-cell proliferation and migration, oocyte meiosis, and ovarian follicle formation/activation are plausible mechanisms. Whole exome sequencing has been used to associate many of these variants with human POI. POI is a serious chronic condition with no cure. It qualifies as a rare disease and as such presents special challenges to patients, parents, and clinicians. Although the diagnosis of POI is often delayed because of the assumption that irregular menses are common among adolescents, early detection is critical for the maintenance of bone and cardiovascular health. Treatment options have focused on hormonal therapy and fertility preservation. However, many studies prove the increasing need to incorporate mental health support and a family systems approach into the management plan.
  
  
  CONCLUSIONS
  Large-scale genomic sequencing has recently identified new mechanisms of POI. However, at present this testing is not clinically indicated as routine. Practice will change as genomic medicine is integrated into standard care. Adolescents with POI are best served by an integrated personal care approach centered on the patient and provided by a primary care clinician who has support from a multidisciplinary team.
authors.affiliation: aDivisions of Adolescent Medicine and Endocrinology, Department of Pediatrics, Hasbro Children's Hospital, Alpert Medical School of Brown University bDepartment of Health and Human Biology, Brown University, Providence, Rhode Island cEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Gordon
authors.forename: Tsuzuki
authors.initials: T
authors.lastname: Kanaoka
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nelson
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology* / Q000523:psychology; D042241:Early Diagnosis; D015914:Estrogen Replacement Therapy / Q000379:methods*; D005260:Female; D059247:Fertility Preservation / Q000379:methods* / Q000523:psychology; D051860:Fragile X Messenger Ribonucleoprotein 1; D005817:Genetic Counseling; D006801:Humans; D007247:Infertility, Female / Q000209:etiology* / Q000523:psychology; D010290:Parents; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000523:psychology / Q000628:therapy
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human