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GENATLAS PHENOTYPE

last update : 25-10-2010

Symbol	AROD
Location	15q21.2
Name	aromatase deficiency syndrome
Corresponding gene	CYP19A1
Main clinical features	hypergonadotropic hypogonadism with multicystic ovaries and low urinary estrogen excretion, due to placental aromatase deficiency 46, XX girls with genital ambiguity and absent pubertal development also virilization of the mother during pregnancy estrogen deficiency in male aromatase deficiency from early embryonic life significantly impairs the functional integrity of of the substantia nigra pars compacta tyrosine hydroxylase-positive neurons and dopamine transporter innervation of the caudate-putamen in adulthood, with risk of Parkinson disease (PMID: 18063054))
Genetic determination	autosomal dominant
Function/system disorder	endocrinology
Type	disease

Gene product

Name	key enzyme for estrogen biosynthesis named aromatase

Remark(s)