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Aromatase Deficiency
CYP19A1
Aromatase deficiency is a rare disorder resulting in estrogen insufficiency in males and females. The first indication is often transient maternal virilization during pregnancy. 46,XX females with aromatase deficiency present at birth with ambiguous genitalia and at puberty exhibit primary amenorrhea, failure of breast development, hypergonadotropic hypogonadism, and cystic ovaries (Conte et al., 1994; Jones et al., 2006). The phenotype of 46,XY males with aromatase deficiency is variable, but common features include tall stature with delayed closure of the epiphyses, osteoporosis, eunuchoid body habitus, abdominal adiposity, gynecomastia, and progressive genu valgum. Estrogen replacement therapy results in improvement of symptoms in males and females.
CYP19A1 is the only gene known to be associated with aromatase deficiency. Because the disorder is rare and only about 20 patients have been reported to date, the sensitivity of CYP19A1 sequencing is not well established. All patients reported thus far with aromatase deficiency who have undergone CYP19A1 molecular studies are homozygous or compound heterozygous for mutations in the CYP19A1 gene.
Analysis is performed by bi-directional sequencing of the nine coding exons (exons 2-10) and the exon/intron splice junctions of the CYP19A1 gene. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
CYP19A1, aromatase deficiency, P450arom deficiency
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