OBJECTIVES:To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with genital ambiguity, including a small phallus and perineoscrotal hypospadias, reared male or female. METHODS:Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Long-term medical and surgical outcome was assessed with a written questionnaire and physical examination. Long-term psychosexual development was assessed with a written questionnaire and semistructured interview. RESULTS:Thirty-nine (72%) of 54 eligible patients participated. The cause underlying genital ambiguity of participants included partial androgen insensitivity syndrome (n = 14; 5 men and 9 women), partial gonadal dysgenesis (n = 11; 7 men and 4 women), and other intersex conditions. Men had significantly more genital surgeries (mean: 5.8) than women (mean: 2.1), and physician-rated cosmetic appearance of the genitalia was significantly worse for men than for women. The majority of participants were satisfied with their body image, and men and women did not differ on this measure. Most men (90%) and women (83%) had sexual experience with a partner. Men and women did not differ in their satisfaction with their sexual function. The majority of participants were exclusively heterosexual, and men considered themselves to be masculine and women considered themselves to be feminine. Finally, 23% of participants (5 men and 4 women) were dissatisfied with their sex of rearing determined by their parents and physicians. CONCLUSIONS:Either male or female sex of rearing can lead to successful long-term outcome for the majority of cases of severe genital ambiguity in 46,XY individuals. We discuss factors that should be considered by parents and physicians when deciding on a sex of rearing for such infants.

译文

目的:鉴定和研究成年人(21岁或以上),具有46,XY核型,并表现为婴儿或有生殖器歧义的儿童,包括小阴茎和阴囊阴囊尿道下裂,男性或女性饲养。
方法:根据医学和手术记录对参与者的两性状况进行归类,对参与者进行分类。通过书面调查表和体格检查评估长期的医学和外科手术结局。通过书面问卷和半结构式访谈评估了长期的性行为发展。
结果:54名符合条件的患者中有39名(72%)参加了研究。参与者生殖器歧义的潜在原因包括部分雄激素不敏感综合征(n = 14; 5名男性和9名女性),部分性腺发育不全(n = 11; 7名男性和4名女性)以及其他两性状况。男性进行的生殖器手术明显多于女性(平均:5.8)(平均:2.1),医师评定的男性生殖器美容外观明显差于女性。大多数参与者对他们的身体形象感到满意,并且男人和女人在这一指标上没有不同。大多数男性(90%)和女性(83%)都曾与伴侣发生过性行为。男女对性功能的满意度没有差异。大多数参与者完全是异性恋,男人认为自己是男性,女人认为自己是女性。最后,有23%的参与者(5名男性和4名女性)对他们的父母和医生确定的饲养性别不满意。
结论:对于46,XY个人中的大多数严重生殖器歧义病例,无论性别是男性还是女性均可成功获得长期结果。我们讨论了父母和医师在确定此类婴儿的性别时应考虑的因素。

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