Prenatal diagnosis of ambiguous genitalia, postnatal correlation and review of the literature

被引:0
作者
Molina, Saulo [1 ]
Felipe Polania, Diego [1 ]
Osorio, Patricia [1 ]
Perez, Jaime [1 ]
机构
[1] Univ Rosario, Bogota, Colombia
来源
UNIVERSITAS MEDICA | 2008年 / 49卷 / 02期
关键词
Prenatal diagnosis; ambiguous genitalia; pseudohermafroditism; gender diagnosis;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objetive. To present a case of prenatal diagnosis of genital ambiguity, with the later postnatal confirmation of masculine pseudohermafroditism. To describe the most important characteristics of obstetrical ultrasound in the genital malformations and to make a review of the Literature that allows to the reader an easy boarding to this type of alteration. Methods. A 38 years old mother was evaluated in the Maternal fetal Medicine Unit around 22 weeks pregnancy and a fetus with the ambiguous external genitalia and possible hipospadias was observed. We evaluate the fetus in the fetal surveliance program according with the institutional protocols. During the postnatal period we made a clinical, hormonal and genetic evaluation. Later, stimulation with testosterone was necessary and we got better characterization of the external genitalia: increase of the thickness of the penis and pigmentation of escrotum was observed. Conclusion. The prenatal diagnosis of this kind of pathology is not always easy. It includes a multidisciplinary study of the possible causes and to determine the best way to treat in benefit of the individual affected by this type of pathology.
引用
收藏
页码:259 / 276
页数:18
相关论文
共 19 条
[1]  
Audi L, 2006, AN PEDIAT S2, V64, P23
[2]  
Audi L, 2000, TRATADO ENDOCRINOLOG, P775
[3]  
Bidarkar Sandeep S, 2005, Semin Pediatr Surg, V14, P118, DOI 10.1053/j.sempedsurg.2005.01.008
[4]  
Brinkmann AO, 2000, ADV PHARMACOL, V47, P317
[5]   Molecular basis of androgen insensitivity [J].
Brinkmann, AO .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2001, 179 (1-2) :105-109
[6]   Disorders of gonadal development [J].
Dewing, P ;
Bernard, P ;
Vilain, E .
SEMINARS IN REPRODUCTIVE MEDICINE, 2002, 20 (03) :189-197
[7]   Fetal gender assignment by first-trimester ultrasound [J].
Efrat, Z. ;
Perri, T. ;
Ramati, E. ;
Tugendreich, D. ;
Meizner, I. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2006, 27 (06) :619-621
[8]  
Gonzalez L, 2001, ARCHIVOS VENEZOLANOS, V6, P68
[9]   Androgens and male physiology the syndrome of 5α-reductase-2 deficiency [J].
Imperato-McGinley, J ;
Zhu, YS .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2002, 198 (1-2) :51-59