Twenty-eight children with ambiguous genitalia were seen at King Khalid University Hospital over a 6-year period. The incidence of this disorder was 0.4/1000 live births. Of the total, 21 (75%) were Saudis and seven (25%) were non-Saudis. The consanguinity rate was 67.9%. Twenty-four (85.7%) were born in hospital and four (14.3%) at home. In only three (10.7%) was the news first broken to the parents by a senior doctor, in 13 (46.4%) by a junior doctor, and in 11 (39.3%) by a nurse. Ambiguous genitalia were observed in 22 (78.6%) at birth and in six (21.4%) were picked up later. Owing to a lack of immediate investigative facilities and for some socio-cultural reasons, 19 of the latter groups were assigned sex without prior investigations. There was an obvious preference to assign male sex. On investigation, 13 (46.4%) had XX chromosomes, 11 (39%) XY and one (3.6%) XO: in three (10.7%), chromosomal results were not available. There were 14 cases (50%) of congenital adrenal hyperplasia, two of 5-alpha reductase deficiency (7.1%), and five of testicular feminization syndrome (17.9%), in addition to others. After investigation, five (17.9%) of the children needed sex reassignment. This was accepted by two and rejected for socio-cultural reasons by three. The opinion of the religious leaders was obtained. Some recommendations on management of these cases are made, based on our local experience.

译文

:在6年的时间里,有28名生殖器模棱两可的儿童在哈立德国王大学医院就诊。该疾病的发生率是0.4 / 1000活产婴儿。在总数中,有21个(75%)是沙特人,而有七个(25%)是非沙特人。血亲率为67.9%。二十四岁(85.7%)出生在医院,四岁(14.3%)在家中出生。只有三名(10.7%)的新闻是由高级医生首先向父母发布的,其中十三名(46.4%)是由初级医生发布的,十一名(39.3%)由护士发布。出生时有22名(78.6%)出现生殖器歧义,后来有6名(21.4%)被发现。由于缺乏立即的调查设施,并且由于某些社会文化原因,后19个群体被分配了性别,而没有事先调查。显然倾向于分配男性性别。经调查,有13条(46.4%)的XX染色体,11条(39%)的XY和1条(3.6%)的XO:三分之二(10.7%)的染色体结果不可用。先天性肾上腺皮质增生症14例(50%),其中5-α还原酶缺乏症2例(7.1%),睾丸女性化综合征5例(17.9%)。经过调查,其中有五名(17.9%)儿童需要重新分配性别。这被两个人接受,由于社会文化原因被三个人拒绝。获得了宗教领袖的意见。根据我们当地的经验,提出了一些处理这些案件的建议。

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