Swyer syndrome (46,XY complete gonadal dysgenesis) is a rare chromosomal pathology. This pathology occurs with a frequency of 1 in 80,000. In genetic analysis, mutations are most often found in the following genes: the SRY gene, the NR5A1 gene, the SOX9 gene, the MAP3K1 gene. Patients with this disease develop phenotypically as women, but due to the absence of gonads and eggs, independent pregnancy is impossible. This article describes a clinical case of a successful onset, course of pregnancy and delivery in a woman with Swyer syndrome using assisted reproductive technology.
SRY gene mutation is a common cause of 46,XY female. We report a 46,XY
female with a novel mutation of SRY c.293G>A (p.Trp98ter).
Our report provides evidence for a pathogenic role of the SRY gene
c.293G>A mutation in an individual and enlarges the
spectrum of molecular diagnosis for these patients.
CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME
