Aromatase excess syndrome: Identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 6, 2011, Pages

  Fukami, Maki ^a   Shozu, Makio ^b   Soneda, Shun ^a   Kato, Fumiko ^a   Inagaki, Akemi ^c   Takagi, Hiroshi ^c   Hanaki, Keiichi ^d   Kanzaki, Susumu ^d   Ohyama, Kenji ^e   Sano, Tomoaki ^e   Nishigaki, Toshinori ^f   Yokoya, Susumu ^g   Binder, Gerhard ^h   Horikawa, Reiko ^g   Ogata, Tsutomu ^a,i  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b CHIBA UNIVERSITY   (Japan)

^c NAGOYA DAINI RED CROSS HOSPITAL   (Japan)

^d TOTTORI UNIVERSITY   (Japan)

^e UNIVERSITY OF YAMANASHI   (Japan)

^f OSAKA POLICE HOSPITAL   (Japan)

^g NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^h UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

ⁱ HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANASTROZOLE; ANDROSTANOLONE; ANDROSTENEDIONE; AROMATASE; FOLLITROPIN; LUTEINIZING HORMONE; MESSENGER RNA; TESTOSTERONE;

ADOLESCENT; ADULT; AGED; AROMATASE EXCESS SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYP19A1 GENE; DISEASE SEVERITY; DISORDERS OF HORMONE METABOLISM; EXON; GAIN OF FUNCTION MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE REARRANGEMENT; GYNECOMASTIA; HETEROZYGOSITY; HUMAN; MALE; MICRORCHIDIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; TESTIS DISEASE; TRANSCRIPTION INITIATION; TREATMENT OUTCOME;

ADOLESCENT; ADULT; AGED; AROMATASE; CHILD; GENOTYPE; GYNECOMASTIA; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION; STEROID METABOLISM, INBORN ERRORS;

EID: 79956335992     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2011-0145     Document Type: Article

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