Fertility in 47,XXX and 45,X patients

Abstract

Female patients with a sex chromosome abnormality may be fertile. In patients with a 47,XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47,XXX patient than the mosaic 46,XX/47,XXX one. Patients with a 45,X cell line rarely become pregnant, and when they do they appear to have a high risk of an abnormal child or repeated unsuccessful pregnancies; this risk is certainly exaggerated by the method of reporting; when the poor reproductive performance is first identified leading to the recognition of the maternal cytogenetic fault, the reproductive failure rate is naturally high; when the maternal fault is first identified and the reproductive history then established far better results are evident.