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

Volumn 23, Issue 9, 2007, Pages 499-504

  Jarzabek, Katarzyna ^a   Philibert, Pascal ^b   Koda, Mariusz ^a   Sulkowski, Stanislaw ^a   Kotula Balak, Malgorzata ^c   Bilinska, Barbara ^c   Kottler, Marie Laure ^d   Wolczynski, Slawomir ^a   Sultan, Charles ^b  

^a MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

^c JAGIELLONIAN UNIVERSITY   (Poland)

^d CAEN UNIVERSITY HOSPITAL   (France)

Author keywords

Androgen receptor; Complete androgen insensitivity syndrome; Nonsense mutation; Sertoli Leydig cell tumor

Indexed keywords

ANDROGEN; AROMATASE; ESTROGEN RECEPTOR;

ADULT; ANDROBLASTOMA; ANDROGEN BLOOD LEVEL; ANDROGEN INSENSITIVITY SYNDROME; ANDROGEN RECEPTOR GENE; APOPTOSIS; ARTICLE; CASE REPORT; ENZYME ACTIVITY; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; NONSENSE MUTATION; PHENOTYPE; POLAND; PRIMARY AMENORRHEA; PRIORITY JOURNAL; TESTIS; VIRILIZATION;

ADULT; AMENORRHEA; ANDROGEN-INSENSITIVITY SYNDROME; APOPTOSIS; AROMATASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; POLAND; RECEPTORS, ANDROGEN; SERTOLI-LEYDIG CELL TUMOR; TESTICULAR NEOPLASMS;

EID: 35449003953     PISSN: 09513590     EISSN: 14730766     Source Type: Journal    
DOI: 10.1080/09513590701553852     Document Type: Article

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