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aromatase deficiency
Genetics:
- chromosomal aberrations involving aromatase gene
Clinical manifestations:
1) female
a) primary amenorrhea
b) ambiguous external genitalia at birth
2) male
- increased height & eunuchoid skeletal features
Laboratory:
- females: elevated serum gonadotropins
- serum FSH, serum LH
Related
cytochrome P450 19A1 (aromatase, estrogen synthetase, CYP19A1)
General
genetic disease of the endocrine system
Database Correlations
OMIM 107910
MORBIDMAP 107910
References
- OMIM :accession 107910
- UniProt :accession P11511