Aromatase excess syndrome in a family with upstream deletion of CYP19A1

Clinical Endocrinology

Volumn 81, Issue 2, 2014, Pages 314-316

  Shihara, Daizou ^a   Miyado, Mami ^a   Nakabayashi, Kazuhiko ^a   Shozu, Makio ^b   Ogata, Tsutomu ^a,c   Nagasaki, Keisuke ^a,d   Fukami, Maki ^a  

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

^b CHIBA UNIVERSITY   (Japan)

^c HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATASE; ESTRADIOL; MESSENGER RNA; CYP19A1 PROTEIN, HUMAN; DMXL2 PROTEIN, HUMAN; NERVE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; AROMATASE EXCESS SYNDROME; AUTOSOMAL DOMINANT DISORDER; BONE AGE; CASE REPORT; CENTROMERE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; DMXL2 GENE; DNA FLANKING REGION; ESTRADIOL BLOOD LEVEL; EXON; FAMILIAL DISEASE; FATHER; FEMALE; GENE; GENE DELETION; GROWTH RATE; GYNECOMASTIA; HUMAN; INTRON; JAPANESE (PEOPLE); LETTER; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SIBLING; SYNDROME; TELOMERE; DISORDER OF SEX DEVELOPMENT; GENETICS; PEDIGREE; YOUNG ADULT;

46, XX DISORDERS OF SEX DEVELOPMENT; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AROMATASE; FEMALE; HUMANS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; SEQUENCE DELETION; YOUNG ADULT;

EID: 84904395765     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12329     Document Type: Letter

References (5)

1. Shozu, M., Sebastian, S., Takayama, K., et al,. (2003) Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. New England Journal of Medicine, 348, 1855-1865.
2. Demura, M., Martin, R.M., Shozu, M., et al,. (2007) Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. Human Molecular Genetics, 16, 2529-2541.
3. Fukami, M., Shozu, M., Soneda, S., et al,. (2011) Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. The Journal of Clinical Endocrinology & Metabolism, 96, E1035-E1043.
4. Gu, W., Zhang, F., &, Lupski, J.R., (2008) Mechanisms for human genomic rearrangements. Pathogenetics, 1, 4.
5. Tung, Y.C., Lee, J.S., Tsai, W.Y., et al,. (2004) Physiological changes of adrenal androgens in childhood. Journal of the Formosan Medical Association, 103, 921-924.