[Gonad function of women with homogenous karyotype XO or with mosaic form. Five case histories of fertile women (author's transl)].
The authors report five cases of fertile women who have Karyotype XO. After a short review of the classification of Turner's syndrome and of the physiopathology of the defective gonads in these patients, 79 cases in the literature and these 5 cases were reviewed and they allow us: a precise description of the morphology of these patients, which is dominated by the high incidence of small growth and the presence of the various degrees of malformations often found in Turner's syndrome; to study the gonad structure and function of these patients who have spontaneous menstruation. And finally to analyse the prognosis of pregnancies that have occurred in 33 women with an XO clone. These women have not only a raised incidence of spontaneous abortions at 32% but also frequent fetal malformations and chromosome abnormalities in the products of conception. It is therefore vital to carry out early amniocentesis in these patients.
D000015:Abnormalities, Multiple; D000022:Abortion, Spontaneous / Q000209:etiology; D005260:Female; D005298:Fertility; D005836:Genitalia, Female / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008598:Menstruation; D009030:Mosaicism; D011247:Pregnancy; D011248:Pregnancy Complications; D012730:Sex Chromosomes / Q000032:analysis; D014424:Turner Syndrome / Q000235:genetics*
La fonction gonadique des femmes à caryotype XO homogène ou en mosaïque numérique. A propos de cinq observations de femmes fertiles.