Berkovitz G D, Guerami A, Brown T R, MacDonald P C, Migeon C J
J Clin Invest. 1985 Jun;75(6):1763-9. doi: 10.1172/JCI111888.
We evaluated a family in which gynecomastia occurred in five males in two generations. In each affected subject, gynecomastia and male sexual maturation began at an early age. The ratio of the concentration of plasma estradiol-17 beta to that of plasma testosterone was elevated in each affected subject. In the three siblings with gynecomastia, the transfer constant of conversion of androstenedione to estrone (i.e., the fraction of plasma androstenedione that was converted to estrone as measured in the urine) was 10 times that of normal persons. The transfer constant of conversion of testosterone to estradiol-17 beta in the one subject studied also was 8-10 times that of normal men, whereas the transfer constants of conversion of estrone to estradiol-17 beta and of estradiol-17 beta to estrone were normal. Despite the elevation in extraglandular aromatase activity, there was a normal response of the hypothalamic-pituitary axis to provocative stimuli. This is the second documentation of gynecomastia that is associated with increased extraglandular aromatase activity, and the first time that the defect was found to be familial with a probable X-linked (or autosomal dominant, sex limited) mode of inheritance.
我们评估了一个家族，该家族两代中的五名男性患有男性乳房发育症。在每一位受影响的个体中，男性乳房发育症和男性性成熟均始于幼年。每一位受影响个体的血浆雌二醇 - 17β浓度与血浆睾酮浓度之比均升高。在三名患有男性乳房发育症的兄弟姐妹中，雄烯二酮向雌酮转化的转移常数（即尿液中测得的血浆雄烯二酮转化为雌酮的比例）是正常人的10倍。在所研究的一名个体中，睾酮向雌二醇 - 17β转化的转移常数也是正常男性的8 - 10倍，而雌酮向雌二醇 - 17β以及雌二醇 - 17β向雌酮转化的转移常数均正常。尽管腺外芳香化酶活性升高，但下丘脑 - 垂体轴对刺激性刺激仍有正常反应。这是与腺外芳香化酶活性增加相关的男性乳房发育症的第二篇文献报道，也是首次发现该缺陷为家族性，可能呈X连锁（或常染色体显性，性别限制）遗传模式。
