Disease Information for Aromatase Deficiency Syndrome

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Clinical Manifestations
Signs & Symptoms
Virilism
Amenorrhea
Amenorrhea, primary
Tall Adult
Demographics & Risk Factors
Sex & Age Groups
Population/Female
Diagnostic Test Results
X-RAY
Xray/Delayed bone age/slow epiphysis closures
Associated Diseases & Rule outs
Associated Disease & Complications
Pseudohermaphroditism, Female XX
Disease Mechanism & Classification
Class
CLASS/Ovary disorder (ex)
CLASS/Ovary/uterus/female genital (category)
Pathophysiology
Pathophysiology/CYP19 gene mutations
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Definition

Aromatase deficiency syndrome; This syndrome is due to a mutation of gene CYP19 and inherited in an autosomal recessive way. Accumulations of androgens during pregnancy may lead to virilization of a female at birth (males are not affected). Females will have primary amenorrhea. Individuals of both sexes will be tall as lack of estrogen does not bring the epiphyseal lines to closure. [WIKEPEDIA Online 2008]

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External Links Related to Aromatase Deficiency Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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