Razzaghy-Azar Maryam, Karimi Sakineh, Shirazi Elham
H. Ali-Asghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran.
Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Int J Endocrinol Metab. 2017 Jul 30;15(3):e12537. doi: 10.5812/ijem.12537. eCollection 2017 Jul.
Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity.
The study aimed to assess gender identity in patients with CAH.
In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition.
In the children group, compatibility was seen between gender identity and rearing gender. In the adult group, there were three cases of mismatching between gender identity and sex assignment composed of two females with poor control and one male with good control with 21-hydroxylase deficiency (21-OHD). Three girls with 11-hydroxylase deficiency (11-OHD) were reared as boy. Two of them with late diagnosis at 5 and 6 years of age had pseudoprecocious puberty. Parents and children did not accept to change the gender. One of them is 36 years old now, is depressed and unsatisfied with her gender, another girl is still child and has male sexual identity. One girl with 11-OHD and early diagnosis at birth with Prader 5 virilization but with good hormonal control was changed to female gender at 12 years of age when female sexual characteristics appeared; she is 34-years-old now, married, and with two children, and she is satisfied with her gender.
In patients with CAH, gender identity disorder is a rare finding. Hormonal control, social, familial, and religious beliefs have impacts on gender identity of these patients.
对性发育障碍（DSD）患者进行婴儿期性别指定是一个具有挑战性的问题。一些先天性肾上腺皮质增生症（CAH）患者存在可能影响其性别认同的DSD。
本研究旨在评估CAH患者的性别认同。
在本研究中，根据《精神障碍诊断与统计手册》第5版的标准，使用两份分别针对儿童和成人的性别认同问卷，对52例CAH患者进行评估，其中包括22例青春期前儿童以及30例青少年和成年人。
在儿童组中，性别认同与抚养性别相符。在成人组中，有3例性别认同与性别指定不匹配的情况，包括2例控制不佳的女性和1例控制良好的21-羟化酶缺乏症（21-OHD）男性。3例11-羟化酶缺乏症（11-OHD）女孩被当作男孩抚养。其中2例在5岁和6岁时诊断较晚，出现了假性性早熟。父母和孩子都不接受改变性别。其中1例现年36岁，对自己的性别感到抑郁和不满，另1例仍是儿童，具有男性性别认同。1例11-OHD女孩出生时诊断较早，有普拉德5级男性化表现，但激素控制良好，在12岁出现女性性征时改为女性性别；她现年34岁，已婚，育有两个孩子，对自己的性别感到满意。
在CAH患者中，性别认同障碍是一种罕见的情况。激素控制、社会、家庭和宗教信仰对这些患者的性别认同有影响。
