45,XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies

Abstract

A case of Turner's syndrome (45,XO) with two pregnancies is reported. There was no evidence of mosaicism after chromosomal investigation of 5 different tissues (2 ovaries, blood, skin, uterus). Pregnancy occurred in both cases after withdrawal of substitutional hormone therapy. The first pregnancy ended with abortion of a macerated hydrocephalic female fetus. Chromosome studies could not be carried out. The second pregnancy ended with delivery by caesarian section of a normal boy (46,XY). Prenatal chromosome analysis was not carried out for ethical reasons.