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The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis.
Ponikwicka-Tyszko D, Kotula-Balak M, Jarzabek K, Bilinska B, Wolczynski S. Ponikwicka-Tyszko D, et al. Among authors: wolczynski s. J Assist Reprod Genet. 2012 Aug;29(8):811-6. doi: 10.1007/s10815-012-9778-y. Epub 2012 May 5. J Assist Reprod Genet. 2012. PMID: 22562240 Free PMC article. No abstract available.
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.
Jarzabek K, Philibert P, Koda M, Sulkowski S, Kotula-Balak M, Bilinska B, Kottler ML, Wolczynski S, Sultan C. Jarzabek K, et al. Among authors: wolczynski s. Gynecol Endocrinol. 2007 Sep;23(9):499-504. doi: 10.1080/09513590701553852. Gynecol Endocrinol. 2007. PMID: 17852420
263 results