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首页> 美国卫生研究院文献>International Journal of Pediatric Endocrinology >46XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome 5α-Reductase-2 Deficiency or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes
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46XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome 5α-Reductase-2 Deficiency or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

机译：由于雄激素不敏感综合征5α-还原酶2缺乏症或17β-羟基类固醇脱氢酶缺乏症而出生时女性或歧义性外生殖器的46XY DSD：生活质量评估

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摘要

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-α reductase-2 deficiency, or 17β-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.
机译：性发育障碍是指先天性疾病的集合，其中发生了染色体，性腺或解剖学性的非典型发育。对46，XY DSD的研究主要集中于性别认同，性别角色和性取向。很少有研究关注其他领域，例如身体和精神健康，这可能会提高一个人的生活质量。本篇综述的重点是自1955年以来发布的有关受雄激素不敏感综合症，5-α还原酶2缺乏症或17β-羟类固醇脱氢酶3缺乏症影响的人的心理健康，认知，总体健康，生育力和性功能的信息。 -成年男性或女性。完整形式的雄激素不敏感综合征一直是除性别以外领域中最多数量的研究重点。尽管如此，本次审查中包括的所有条件都没有得到充分研究。确定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。这样的调查不仅可以改善受DSD影响的人们的生活质量，而且可以提供信息以改善普通人群的身心健康。

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