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Pathway Description
Aromatase Deficiency
Homo sapiens
Disease Pathway
Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels. Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Treatments include lifelong hormone therapy. There have been about 20 reported cases of Aromatase Deficiency worldwide.
References
Aromatase Deficiency References
[Metagen: AROMATASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=429)
[OMIM: 107910](http://omim.org/entry/107910})
Verma N, Jain V, Birla S, Jain R, Sharma A: Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. J Pediatr Endocrinol Metab. 2012;25(11-12):1185-90. doi: 10.1515/jpem-2012-0152.
Pubmed: 23329769
Bulun SE: Clinical review 78: Aromatase deficiency in women and men: would you have predicted the phenotypes? J Clin Endocrinol Metab. 1996 Mar;81(3):867-71. doi: 10.1210/jcem.81.3.8772541.
Pubmed: 8772541
Matsumoto T, Honda S, Harada N: Neurological effects of aromatase deficiency in the mouse. J Steroid Biochem Mol Biol. 2003 Sep;86(3-5):357-65.
Pubmed: 14623532
Androgen and Estrogen Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Norman, A.W, and Litwack, G. Hormones (2nd ed.) (1997) San Diego : Academic Press.
Eagon PK, Elm MS, Epley MJ, Shinozuka H, Rao KN: Sex steroid metabolism and receptor status in hepatic hyperplasia and cancer in rats. Gastroenterology. 1996 Apr;110(4):1199-207.
Pubmed: 8613010
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