Would be mandatory Fragile X syndrome screening in Premature Ovarian Insufficiency study?

Abstract

Fragile X Syndrome is a confirmed cause of Primary Ovarian Insufficiency (POI). The frequency of women who carry a premutation is 1/300. This has many consequences with the most significant being the loss of reproductive hormones and infertility. However, there are 5-10% of spontaneous pregnancies. For this reason patients must be informed by genetic counselling of the risk of having a newborn who may carry a premutation or Fragile X Syndrome. We report the case of 33-year-old woman referred for 5-month-long amenorrhea. In the study, serum gonadotropins were found at menopausal range. The patient became pregnant without medical intervention and before having the results of the genetic study, which was diagnostic of carrier of Fragile X Syndrome premutation with 90 expanded CGG repeats. An amniocentesis was performed afterwards, which reported the 46XX newborn to be positive for complete mutation of Fragile X Syndrome, with 200 expanded CGG repeats. Finally, a girl with correct weight was born by vaginal delivery at 37.5 weeks. She presented late and slow psychomotor development in the first years of life and is currently receiving paediatric neurology follow-up.