The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis

J Assist Reprod Genet. 2012 Aug;29(8):811-6. doi: 10.1007/s10815-012-9778-y. Epub 2012 May 5.

Authors

Donata Ponikwicka-Tyszko¹, Malgorzata Kotula-Balak, Katarzyna Jarzabek, Barbara Bilinska, Slawomir Wolczynski

Affiliation

¹ Department of Biology and Pathology of Human Reproduction, Bialystok, Institute of Animal Reproduction and Food Research of Polish Academy of Sciences, Tuwima 10, 10-748, Olsztyn, Poland.

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Adrenal Hyperplasia, Congenital / genetics*
Adrenal Hyperplasia, Congenital / metabolism
Adrenal Insufficiency / genetics
Adrenal Insufficiency / metabolism
Adult
Child
DAX-1 Orphan Nuclear Receptor / genetics*
DAX-1 Orphan Nuclear Receptor / metabolism
Exons
Genetic Testing / methods
Humans
Hypogonadism / genetics*
Hypogonadism / metabolism
Immunohistochemistry
Male
Point Mutation*
Spermatogenesis*

Substances

DAX-1 Orphan Nuclear Receptor
NR0B1 protein, human