John Libbey Eurotext

Médecine de la Reproduction


From karyotype to gene: genetic investigations in premature ovarian failure in 2017? Volume 19, issue 1, Janvier-Février-Mars 2017


  • Figure 1
  • Figure 2
  • Figure 3


1 Département de génétique médicale,
groupe hospitalier universitaire de l’Est Parisien,
Hôpital Armand Trousseau,
avenue du Docteur-Arnold-Netter,
75012 Paris
2 Laboratoire de génétique et biologie moléculaires,
hôpitaux universitaires Paris Centre,
hôpital Cochin,
rue du faubourg Saint-Jacques,
75005 Paris
* Tirés à part
  • Key words: Premature ovarian insufficiency, genetic testing, karyotype, array-CGH
  • DOI : 10.1684/mte.2017.0644
  • Page(s) : 11-20
  • Published in: 2017

Premature ovarian insufficiency (POI), clinically characterized by cessation of ovarian function before the age of 40 years, occurs in approximately 1-5% of women. POI may be secondary to chemotherapy, radiotherapy or environmental factors but genetic causes are identified in 20-25% of cases. Among genetic causes abnormal chromosome numbers, such as monosomy X that is responsible for Turner syndrome, or chromosomal rearrangements are the most frequent causes of POI. The development of array-CGH or SNP array and Next Generation Sequencing (NGS) during the past decades has allowed to identify new causes of POI. However, karyotype and FMR1 gene premutation analyses are the first genetic investigations that have to be conducted in patients with POI. For further genetic investigations, patients can be referred to a reference center where a second line of genetic analysis can be performed.