Meinhardt Udo, Mullis Primus E
Department of Pediatrics, Pediatric Endocrinology/Diabetology and Metabolism, University Children's Hospital, Inselspital, CH-3010 Bern, Switzerland.
Semin Reprod Med. 2002 Aug;20(3):277-84. doi: 10.1055/s-2002-35374.
Aromatase (P450arom) catalyzes the conversion of testosterone to estradiol, androstenedione to estrone, and 16a-hydroxylated dehydroepiandrosterone to estriol. P450arom is encoded by the human CYP19 gene (15q21.1) spanning about 123 kb with a coding region of 9 exons (about 30 kb, exon II to 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.) always remains the same. As not only androgens but also estrogens are of importance particularly in male pubertal development including bone changes, which were classically considered 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 this disorder are concerned.
芳香化酶（P450arom）催化睾酮转化为雌二醇、雄烯二酮转化为雌酮以及16α-羟基脱氢表雄酮转化为雌三醇。P450arom由人类CYP19基因（15q21.1）编码，该基因跨度约123 kb，编码区有9个外显子（约30 kb，外显子II至外显子X）。尽管存在多个可变的第一外显子以及九个不同的转录起始位点和各自的启动子，可实现组织特异性的表达调控，但在这些不同组织部位（胎盘、脂肪组织、脑、骨、卵巢等）表达的蛋白质始终相同。由于雄激素和雌激素不仅在男性青春期发育包括骨骼变化中起重要作用（骨骼变化传统上被认为依赖雄激素），本文将讨论受影响的男孩、女孩以及成年男性和女性芳香化酶缺乏综合征的特征。人们越来越意识到雄激素和雌激素具有广泛的代谢作用，远远超出生殖过程。例如，雌激素对碳水化合物和脂质代谢、血管功能及动脉硬化有显著影响。此外，性腺外雌激素生物合成在例如乳腺癌和子宫内膜异位症等方面发挥着重要但常被低估的生理和病理生理作用。基于这些认识，在该疾病的治疗和随访方面已取得进展。
