Defective CYP19A1 does not convert ANDST to E1

Stable Identifier
Reaction [transition]
Homo sapiens
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Aromatase (CYP19A1) catalyses the conversion of androstenedione (ANDST) to estrone (E1). Defects in CYP19A1 can cause aromatase excess syndrome (AEXS; MIM:139300) and aromatase deficiency (AROD; MIM:613546). Affected individuals cannot synthesise endogenous estrogens. In females the lack of estrogen leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal development is normal. Mutations causing AEXS include C437Y, R375C, R365Q and E210K (Ito et al. 1993, Morishima et al. 1995, Carani et al. 1997, Maffei et al. 2004).
Literature References
PubMed ID Title Journal Year
8265607 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries

Fisher, CR, Conte, FA, Ito, Y, Grumbach, MM, Simpson, ER

Proc. Natl. Acad. Sci. U.S.A. 1993
14715828 Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment

Aranda, C, Rochira, V, Vazquez, M, Simpson, ER, Tubert, G, Carani, C, Davis, S, Maffei, L, Murata, Y, Clyne, CD

J. Clin. Endocrinol. Metab. 2004
9211678 Effect of testosterone and estradiol in a man with aromatase deficiency

Faustini-Fustini, M, Qin, K, Korach, KS, Boyd, J, Serpente, S, Simpson, ER, Simoni, M, Carani, C

N. Engl. J. Med. 1997
8530621 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens

Fisher, C, Qin, K, Grumbach, MM, Simpson, ER, Morishima, A

J. Clin. Endocrinol. Metab. 1995
Catalyst Activity

steroid hydroxylase activity of CYP19A1 mutants [endoplasmic reticulum membrane]

Normal reaction
Functional status

Loss of function of CYP19A1 mutants [endoplasmic reticulum membrane]

Name Identifier Synonyms
pseudohermaphroditism DOID:3765 Indeterminate sex and pseudohermaphroditism, Indeterminate sex and pseudohermaphroditism (disorder), Pseudohermaphroditism (disorder), pseudohermaphroditism, Indeterminate sex or pseudohermaphroditism NOS (disorder)
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