Article
[Pure 46XY gonadal dysgenesis].
Journal de gynecologie, obstetrique et biologie de la reproduction - 1 Jan 1996
Coutin A S, Hamy A, Fondevilla M, Savigny B, Paineau J, Visset J
Abstract excerpt
46 XY pure gonad dysgenesia, also known as Swyer syndrome, is a disorder of sexual differentiation. The patients are phenotypic females with a 46 XY karyotype and hypoplastic gonads without germ cells. They present most often with primary amenorrhea. The study of this abnormality in testicular differentiation contributed to the identification of the gene SRY, testis determining factor. To date, 20% of 46 XY pure...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.