Abdullah M A, Katugampola M, al-Habib S, al-Jurayyan N, al-Samarrai A, Al-Nuaim A, Patel P J, Niazi M
Department of Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ann Trop Paediatr. 1991;11(4):343-8. doi: 10.1080/02724936.1991.11747526.
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.
在6年时间里，沙特国王哈立德大学医院共接诊了28例生殖器模糊的儿童患者。这种病症的发病率为0.4/1000活产儿。其中，21例（75%）为沙特人，7例（25%）为非沙特人。近亲结婚率为67.9%。24例（85.7%）在医院出生，4例（14.3%）在家中出生。只有3例（10.7%）是由资深医生首先告知家长这一情况的，13例（46.4%）由初级医生告知，11例（39.3%）由护士告知。22例（78.6%）在出生时就被发现生殖器模糊，6例（21.4%）后来才被发现。由于缺乏即时的检查设备以及一些社会文化原因，后一组中有19例未经事先检查就被确定了性别。明显更倾向于确定为男性性别。经检查，13例（46.4%）为XX染色体，11例（39%）为XY染色体，1例（3.6%）为XO染色体；3例（10.7%）无法获得染色体检查结果。除其他病症外，有14例（50%）先天性肾上腺皮质增生症，2例（7.1%）5-α还原酶缺乏症，5例（17.9%）睾丸女性化综合征。检查后，5例（17.9%）儿童需要进行性别重新指定。其中2例接受了，3例因社会文化原因拒绝了。还征求了宗教领袖的意见。基于我们当地的经验，对这些病例的处理提出了一些建议。
