45,XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies.
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.
D000328:Adult; D005260:Female; D006801:Humans; D009030:Mosaicism; D010053:Ovary / Q000473:pathology / Q000648:ultrastructure; D010298:Parity; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology