Features include very common findings: Delayed skeletal maturation, Hypergonadotropic hypogonadism, Female pseudohermaphroditism, and Primary amenorrhea and others; and common findings: Insulin resistance, Acanthosis nigricans, Hepatic steatosis, and Macroorchidism, postpubertal and others. 26 total HPO annotations.

CYP19A1 encodes cytochrome P450 family 19 subfamily A member 1 (503 aa). A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively. Highest expression in Cells Cultured fibroblasts (7.6 TPM) and Nerve Tibial (3.4 TPM).

Aromatase deficiency is associated with mutations in the CYP19A1 gene on chromosome 15.

The CYP19A1 protein participates in Defective CYP19A1 causes AEXS, CYP19A1 hydroxylates ANDST to E1, and CYP19A1 hydroxylates TEST to EST17b pathways.

CYP19A1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 2.5.

Genetic testing for CYP19A1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 19 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for aromatase deficiency.

31 publications have been identified in PubMed for aromatase deficiency. Research spans Review / Meta-Analysis (39%), Case Report / Case Series (39%), and Basic Science / Preclinical (19%).