A Case of 45 , X/47 , XXX Turner Syndrome Which has Experienced Pregnacy and Premature Ovarian Failure

Nam, Y S; Lee, S H; Kwak, I P; Yoon, T K; Cha, K Y

Abstract

Sex chromosome monosomy occurs as monosomy X or Turner syndrome (45,X). Monosomy X is prenatally lethal in most cases, occuring in many cytogenetically abnormal spontaneous abortions. The incidence of monosomy X does not appear to be associated with increased maternal age. It is usually the paternal sex chromosome that is absent, suggesting that nondisjunction in the spermatogonium may be the underlying mechanism in the majority of cases. Monosomy Y is never observed; presumably, the presence of at leats one X chromosome is required for early embryonic development. Females with one extra X chromosome (47,XXX) may be indistinguishable from those with a normal 46,XX karyotype, although decreased fertility and an increased risk for nondisjunction may lead to reproduction problems. Females with more than three X chromosomes (48,XXXX; 49,XXXXX) have an increased incidence of physical abnormalities that may be apparent at birth, and they exhibit varying degrees of mental retardation. We have experienced a case of Turner syndrome which has experienced pregnancy and premature ovarian failure. So we report this case with a brief review of literatures.