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GENATLAS PHENOTYPE

last update : 19/01/2008

Symbol	AROE
Location	15q21.2
Name	aromatase excess syndrome
Corresponding gene	CYP19A1
Other symbol(s)	AEXS
Main clinical features	high systemic estrogen levels, short stature, prepubertal gynecomastia and testicular failure in males premature breast development and uterine pathology in females
Genetic determination	autosomal dominant
Function/system disorder	endocrinology
Type	disease

Gene product

Name	key enzyme for estrogen biosynthesis named aromatase

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/gain of function
	inversion	over-expression	small rearrangements may create cryptic promoters that direct inappropriate transcription of CYP19 or other critical genes

Remark(s)