Meyer-Bahlburg Heino F L
NYS Psychiatric Institute/Department of Psychiatry, Columbia University, New York, N.Y., USA.
Endocr Dev. 2011;20:88-95. doi: 10.1159/000321225. Epub 2010 Dec 16.
The disturbance of the hypothalamic-pituitary- adrenal axis characteristic of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is likely to affect brain development, yet neuroanatomic work is only beginning. Fetal hyperandrogenemia in 46, XX 21-OHD leads to masculinized brain organization and, consequently, at later stages of development, to masculinized gender-related behavior and cognitive function, including, although relatively uncommonly, gender identity. Genital masculinization as well as its surgical treatment has implications for social stigmatization and sexual functioning. CAH-associated electrolyte crises in infancy and later may result in severe cognitive impairment. Psychiatric disorders are somewhat increased, especially in patients with severe degrees of CAH.
由于21-羟化酶缺乏（21-OHD）导致的先天性肾上腺皮质增生症（CAH）所特有的下丘脑-垂体-肾上腺轴紊乱可能会影响大脑发育，但神经解剖学研究才刚刚起步。46，XX 21-OHD患者的胎儿雄激素过多会导致大脑组织男性化，因此在发育后期会出现与性别相关的男性化行为和认知功能，包括（虽然相对不常见）性别认同。生殖器男性化及其手术治疗会对社会污名化和性功能产生影响。婴儿期及以后与CAH相关的电解质危机可能导致严重的认知障碍。精神疾病有所增加，尤其是在CAH严重程度较高的患者中。
