一例迟发性两性畸形病例。
A Case with late onset of ambiguous genitalia.
作者信息
Gargari Soraya Saleh, Azizi Faezeh, Saleh Nasrin, Omrani Mir Davood
机构信息
Feto-Maternal Unit, Mahdieh Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
出版信息
Int J Reprod Biomed. 2017 Mar;15(3):175-178.
BACKGROUND
Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development.
CASE
In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions. No mutations were found in these genes either.
CONCLUSION
It seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.
背景
两性生殖器畸形是一种罕见情况，每1000例活产中发生1至2例，属于性发育障碍的综合诊断范畴。
病例
在本文中，我们报告一例患有两性生殖器畸形的男性假两性畸形病例。先证者是一名12岁女孩，没有任何子宫或卵巢组织。该病例的核型为46，XY。对参与性分化的基因如AR、SRD5A2、LH、LHR、FSH、17βHSD和SRY基因进行双向测序。这些基因中也未发现突变。
结论
在类似病例中似乎宜谨慎行事，并修订追踪患者相关基因的方案。
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