Wisniewski Amy B, Mazur Tom
Section of Pediatric Diabetes and Endocrinology, Department of Pediatrics, University of Oklahoma Health Sciences Center, 940 NE 13th Street, Room 2B2426, Oklahoma City, OK 73117, USA.
Int J Pediatr Endocrinol. 2009;2009:567430. doi: 10.1155/2009/567430. Epub 2009 Sep 10.
Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-alpha reductase-2 deficiency, or 17beta-hydroxysteroid dehydrogenase-3 deficiency-reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population.
性发育障碍是指一系列先天性疾病,其中染色体、性腺或解剖学性别的发育出现异常。对46,XY性发育障碍的研究主要集中在性别认同、性别角色和性取向上。很少有研究关注其他领域,如可能影响一个人生活质量的身心健康。本综述聚焦于自1955年以来发表的有关受雄激素不敏感综合征、5-α还原酶-2缺乏症或17β-羟类固醇脱氢酶-3缺乏症影响的男性或女性在心理健康、认知、总体健康、生育能力和性功能方面的信息。除性别领域外,完全型雄激素不敏感综合征是众多研究的焦点。尽管如此,本综述中纳入的所有疾病的研究都还不足。确定需要进一步研究的领域包括心理健康、认知能力、总体健康、生育能力和性功能。此类研究不仅会改善性发育障碍患者的生活质量,还可能为改善普通人群的身心健康提供信息。