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

Journal of Assisted Reproduction and Genetics

Volumn 29, Issue 8, 2012, Pages 811-816

  Ponikwicka Tyszko, Donata ^a   Kotula Balak, Malgorzata ^b   Jarzabek, Katarzyna ^a,c   Bilinska, Barbara ^b   Wolczynski, Slawomir ^a,c  

^a INSTITUTE OF ANIMAL REPRODUCTION AND FOOD RESEARCH   (Poland)

^b JAGIELLONIAN UNIVERSITY   (Poland)

^c MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; AROMATASE; CHORIONIC GONADOTROPIN; CONNEXIN 43; ESTRADIOL; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; GENOMIC DNA; GONADOTROPIN RECEPTOR; HUMAN MENOPAUSAL GONADOTROPIN; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1; TESTOSTERONE;

ADRENAL DISEASE; ADRENAL HYPOPLASIA CONGENITA; ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; ESTRADIOL BLOOD LEVEL; EXON; HORMONE SUBSTITUTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IMMUNOHISTOCHEMISTRY; LEYDIG CELL; MALE; MALE INFERTILITY; MEDICAL HISTORY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEMEN ANALYSIS; SEQUENCE ANALYSIS; SERTOLI CELL; SPERMATOGENESIS; TESTIS BIOPSY; TESTOSTERONE BLOOD LEVEL;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENAL INSUFFICIENCY; ADULT; CHILD; DAX-1 ORPHAN NUCLEAR RECEPTOR; EXONS; GENETIC TESTING; HUMANS; HYPOGONADISM; IMMUNOHISTOCHEMISTRY; MALE; POINT MUTATION; SPERMATOGENESIS;

EID: 84867081934     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-012-9778-y     Document Type: Article

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