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文章基本信息

  • 标题:Ambiguous genitalia in neonates: a 4-year prospective study in a localized area
  • 本地全文:下载
  • 作者:A.N. Al-Mulhim ; H.M. Kamal
  • 期刊名称:Eastern Mediterranean Health Journal
  • 印刷版ISSN:1020-3397
  • 出版年度:2010
  • 卷号:16
  • 期号:2
  • 页码:214-217
  • 出版社:World Health Organization
  • 摘要:

    This study aimed to determine the possible etiology of ambiguous genitalia in 41 newborn infants 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 patients. Positive family history of ambiguous genitalia was noted in 4 patients.

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