Department of Paediatrics, Maternity and Children Hospital, Hofuf, Saudi Arabia.
East Mediterr Health J. 2010 Feb;16(2):214-7.
This study aimed to determine the possible etiology ot ambiguous genitalia in 41 newborn intants at a referral hospital in Hofuf city, Saudi Arabia. In 46,XX karyotype patients (n 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients (n=18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. In patients with abnormal karyotype (n=3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. The karyotype was undetermined in 6 natients. Positive family history of ambiguous genitalia was noted in 4 patients.
本研究旨在确定沙特阿拉伯胡富夫市一家转诊医院 41 名新生儿出现生殖器模糊的可能病因。在 46,XX 核型患者（n=14）中，先天性肾上腺皮质增生症和一般畸形是生殖器模糊的最常见原因，而在 46,XY 核型患者（n=18）中，即使伴有一般畸形，睾丸酮生物合成途径缺陷也是最常见的原因。在核型异常的患者（n=3）中，1 例患有 18 三体综合征（47,XX），并在 3 个月后死亡，2 例患有不同类型的特纳综合征嵌合体。6 名患者的核型不确定。4 名患者有生殖器模糊的阳性家族史。
