Edman C D, Winters A J, Porter J C, Wilson J, MacDonald P C
Obstet Gynecol. 1977 Feb;49(2):208-17.
Aberrations of fetal sexual development were studied in three XY agonadal individuals. Two were phenotypic females with primary amenorrhea, sexual infantilism, and no internal genital structures. Plasma androstenedione and testosterone concentrations were similar to those of prepubertal children and increased after ACTH infusion. The daily production rates of estrone were low. The third agonadal XY individual, a phenotypic male, developed gynecomastia in response to approximately 40 mug of estrone produced daily by the extraglandular aromatization of plasma androstenedione. All plasma testosterone was accounted for by the conversion of plasma androstenedione. The absence of internal genitalia, the prepubertal external genitalia in the phenotypic females, and the incomplete growth of both the internal and external genital structures in the phenotypic male subject suggest that testicular elaboration of müllerian regression substance occurred, but that regression of the testes occurred subsequently during varying stages of embryogenesis. In the females, testicular regression occurred prior to the initiation of fetal testicular production of androgen. On the other hand, in the male subject, testicular activity persisted longer; thus, both müllerian duct regression and embryonic virilization of wolffian ducts and genital tubercles occurred.
对三名XY性腺个体的胎儿性发育异常情况进行了研究。其中两名是表型女性，有原发性闭经、性幼稚症，且无内生殖器结构。血浆雄烯二酮和睾酮浓度与青春期前儿童相似，促肾上腺皮质激素输注后升高。雌酮的日生成率较低。第三名XY性腺个体为表型男性，因血浆雄烯二酮经腺外芳香化作用每日产生约40微克雌酮而出现乳腺增生。所有血浆睾酮均由血浆雄烯二酮转化而来。表型女性无内生殖器、青春期前外生殖器，表型男性内、外生殖器结构发育不完全，这表明睾丸产生了苗勒管抑制物质，但随后在胚胎发育的不同阶段睾丸发生了退化。在女性中，睾丸退化发生在胎儿睾丸开始产生雄激素之前。另一方面，在男性个体中，睾丸活动持续时间更长；因此，苗勒管退化以及中肾管和生殖结节的胚胎男性化均发生了。
