阴部模糊的罕见病例报告

Dr Chirag L U, Lohit Kumbar, C. Selvan, Manjunath Pr
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引用次数: 0

摘要

一个模糊的生殖器是一个常见的参考临床情景内分泌门诊。准确的诊断对于预防相关的盐耗危机,短期内指导饲养性别,长期监测性腺恶性肿瘤的发展至关重要。17 β -羟基类固醇脱氢酶3缺乏症(17 β HSD 3)是导致睾酮生物合成缺陷的原因之一。女性外生殖器伴腹股沟疝或轻度阴蒂肿大的患儿应怀疑17β-HSD3缺乏;以及在青春期出现男性化和男性乳房发育的生殖器模糊的男性。激素评估可能并不总是诊断,这使得基因确认必不可少。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare case report of ambiguous genitalia
An ambiguous genitalia is a commonly referred clinical scenario to endocrinology outpatient department. Accurate diagnosis is paramount to prevent associated salt-wasting crisis, direct the gender of rearing in the short-term, and monitoring for the development of malignancy in the gonads in the long-term. 17 beta-hydroxysteroid dehydrogenase 3 deficiency (17 β HSD 3) is one of the causes of defective testosterone biosynthesis. 17β-HSD3 deficiency should be suspected in children with female external genitalia with inguinal hernias or mild clitoromegaly; as well as males with ambiguous genitalia who develop virilization and gynecomastia at puberty. A hormonal evaluation may not always be diagnostic which makes genetic confirmation essential.
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