Article
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Sept 2007
Jarzabek Katarzyna, Philibert Pascal, Koda Mariusz, Sulkowski Stanislaw, Kotula-Balak Malgorzata, Bilinska Barbara, Kottler Marie-Laure, Wolczynski Slawomir, Sultan Charles
Abstract excerpt
Primary amenorrhea in 46,XY females can be due to complete androgen insensitivity syndrome (CAIS), pure gonadal dysgenesis, 17-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis. The present paper describes a new de novo non-sense mutation in exon 1 (K141Z) of the androgen receptor gene (AR) and the expression in CAIS testis of aromatase, estrogen receptors, as well as proliferation- and...
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