[Fertility and Turner mosaicism syndrome]

Six patients with a Turner mosaicism are reported. All six women were investigated for sterility or infertility. Four of six patients had a total of nine pregnancies: six abortions, one stillbirth, two normal children. The literature contains reports of 17 pregnancies in 10 women with 45.X karyotype and 106 pregnancies in 48 women with mosaicism. Miscarriages, stillbirths and malformations were common. These women need special counselling and in case of a pregnancy amniocentesis is indicated. We discuss the pathogenesis of reduced fertility with Turner patients and explain the problems related to the cystogenetic diagnosis of the Turner-Mosaic Syndrome.