Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development

Lien vers Pubmed [PMID] – 18000096

J. Clin. Endocrinol. Metab. 2008 Jan;93(1):182-9

We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X).