Hourtane M, Leheuzey M F
Service de psychopathologie de l'enfant et de l'adolescent, hôpital Robert-Debré, Paris, France.
Arch Pediatr. 1994 Jul;1(7):659-62.
Gender identity is influenced by genetic and hormonal factors and also by the sex of rearing.
A child was born with ambiguous genitalia. Male sex assignment was made. Hypospadias and left inguinal hernia were present. The hernial sac contained an ovarian tissue. Plasma testosterone, 17-OH progesterone, cortisone levels were normal as were basal FSH and LH levels. There was a vagina but no uterus. The karyotype showed 45X/46XY mosaicism. The testis in the right scrotum was removed and vulvoplasty was performed at the age of 10 months; the patient was than raised as a female. Several courses of reconstructive genital surgery were necessary between 1 and 8 years of age. The girl suffered from trichotillomania and sleep disorders from the age of 4 years and learning difficulties and social phobia from the age of 8. When 11.5 years-old, she had clinical features of Turner's syndrome, was depressive but appeared to prefer male playmates.
Two mechanisms may explain alterations in gender identity in this patient with asymmetric gonadal dysgenesis; 1) early and prolonged androgen exposure as seen in patients with congenital adrenal hyperplasia; 2) insufficient counselling with parents regarding questions of gender identity.
性别认同受遗传、激素因素以及抚养性别影响。
一名儿童出生时生殖器模糊不清。被判定为男性性别。存在尿道下裂和左侧腹股沟疝。疝囊内有卵巢组织。血浆睾酮、17-羟孕酮、可的松水平正常，基础促卵泡生成素和促黄体生成素水平也正常。有阴道但无子宫。核型显示为45X/46XY嵌合体。右侧阴囊内的睾丸在10个月大时被切除，并进行了外阴成形术；之后该患者作为女性抚养。在1至8岁期间需要进行几次生殖器重建手术。该女孩从4岁起患有拔毛癖和睡眠障碍，从8岁起出现学习困难和社交恐惧症。11.5岁时，她有特纳综合征的临床特征，情绪抑郁，但似乎更喜欢男性玩伴。
两种机制可能解释了这名不对称性腺发育不全患者的性别认同改变；1）如先天性肾上腺皮质增生症患者所见的早期和长期雄激素暴露；2）在性别认同问题上与父母的咨询不足。
