46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis

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• 作者：Gianni Russo ; MD¹ ; ^{russo.gianni26@gmail.com} ; ^{russo.gianni@hsr.it} ; Alessandra di Lascio ; MD¹ ; Matilde Ferrario ; MD² ; Silvia Meroni ; MD¹ ; Olaf Hiort ; MD³ ; Giuseppe Chiumello ; MD¹
• 关键词：46 ; XY DSD ; Prenatal diagnosis ; 17betaHSD3 deficiency
• 刊名：Journal of Pediatric and Adolescent Gynecology
• 出版年：2012
• 期刊代码：167_10833188
• 类别：med
• 出版时间：June, 2012
• 卷：25
• 期：3
• 页码：e77-e79
• 文件大小：71 K

摘要

lass="h4">Background

The growing use of prenatal investigations allows an early detection of several inborn disorders, including disorders of sexual development. The management of these conditions is an arising problem.

lass="h4">Case

46,XY karyotype and female phenotype were detected in a fetus; 5伪-reductase and androgen receptor gene analysis on chorionic villi revealed no relevant mutation. The newborn was assigned to female sex. The diagnosis of 17尾-hydroxysteroid dehydrogenase-3 尾-OL deficiency was reached at four months of age, by means of a low testosterone/螖 4-androstenedione ratio after HCG test and HSD17B3 gene analysis.

lass="h4">Summary and Conclusion

A 46,XY fetus with female external genitalia suggests different conditions, some very rare. Specific genetic investigations should be performed prenatally when possible. A complete evaluation is mandatory after delivery to reach a correct diagnosis.