Defective CYP19A1 does not convert ANDST to E1

Stable Identifier
R-HSA-5601849
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
14715828 Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment

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

J. Clin. Endocrinol. Metab. 2004
8265607 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries

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

Proc. Natl. Acad. Sci. U.S.A. 1993
9211678 Effect of testosterone and estradiol in a man with aromatase deficiency

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

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

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

J. Clin. Endocrinol. Metab. 1995
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
steroid hydroxylase activity of CYP19A1 mutants [endoplasmic reticulum membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
pseudohermaphroditism 3765 Indeterminate sex and pseudohermaphroditism, Indeterminate sex and pseudohermaphroditism (disorder), Pseudohermaphroditism (disorder), pseudohermaphroditism, Indeterminate sex or pseudohermaphroditism NOS (disorder)
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