The aromatase cytochrome P-450 and its clinical impact.

[aromatase deficiency]

Cytochrome P-450 aromatase (P 450 arom ), the key enzyme for estrogen biosynthesis , is encoded by a single gene , namely the CYP 19 gene , localized on 15 q 21 .2 . The human CYP 19 gene spans about 123 kb with a coding region of 9 exons (about 30 kb , exon II -exon X ). Although there are a number of alternative first exons and nine different transcriptional start sides with individual promoters that permit tissue-specific regulation of expression , the protein expressed in these various tissue sites (placenta , adipose tissue , brain , bone , ovary , etc .) is the same regardless of the promoter used . P 450 arom catalyzes the conversion of testosterone to estradiol , of androstenedione to estrone , and of 16 alpha-hydroxylated dehydroepiandrosterone to estriol . As not only androgens but also estrogens are of importance , particularly in the male pubertal development , including bone changes which were classically considered mostly androgen dependent , the features of the aromatase deficiency syndrome in affected boys and girls as well as adult males and females are discussed . There is growing awareness that androgens and estrogens have general metabolic roles that reach far beyond reproductive processes . For instance , estrogen has a significant impact on carbohydrate and lipid metabolism , vascular function , and arteriosclerosis . In addition , extragonadal estrogen biosynthesis plays an important but often underestimated physiological and pathophysiological role , for example in breast cancer and endometriosis . Based on that knowledge , progress has been made as far as treatment and follow-up of these disorders are concerned . In addition , there is a focus on the treatment of children suffering from a lack of P 450 arom activity .

Diseases
Validation

Diseases presenting "mostly androgen" symptom

aromatase deficiency

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