Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant

被引:1
作者
Brasileiro, Luciana Ferreira [1 ,2 ]
Violin Dias Pereira, Luis Antonio [3 ]
Miranda, Marcio Lopes [2 ,4 ]
Lopes de Freitas, Leandro Luiz [5 ]
Marques-de-Faria, Antonia Paula [2 ,6 ]
Maciel-Guerra, Andrea Trevas [2 ,6 ]
Guerra-Junior, Gil [1 ,2 ]
机构
[1] State Univ Campinas UNICAMP, Unit Pediat Endocrinol, Dept Pediat, Sch Med, BR-13083887 Campinas, SP, Brazil
[2] Univ Estadual Campinas, Sch Med, Interdisciplinary Grp Sex Determinat & Differenti, Campinas, SP, Brazil
[3] Univ Estadual Campinas, Inst Biol, Dept Biochem & Tissue Biol, Campinas, SP, Brazil
[4] Univ Estadual Campinas, Sch Med, Unit Pediat Surg, Campinas, SP, Brazil
[5] Univ Estadual Campinas, Sch Med, Dept Pathol Anat, Campinas, SP, Brazil
[6] Univ Estadual Campinas, Sch Med, Dept Med Genet, Campinas, SP, Brazil
关键词
intersex; newborn; perineal lipoma; perineal mass; urethral caruncle; PERINEAL LIPOMA; PHALLUS; NEONATE; POLYP; MASS;
D O I
10.1515/jpem-2015-0165
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We report the case of a 46, XX infant referred at 3 months of age for evaluation of ambiguous genitalia with no palpable gonads. The phallus was replaced by a homogeneous peduncular structure covered by skin, and a second peduncular structure covered by mucosa was located between the labia minora above the urethral meatus and the vaginal opening. There were no associated anomalies, and she had normal growth and neuromotor development. During surgery to remove these structures, a bifid clitoris was detected and cystoscopy and vaginoscopy revealed normal female urethra and vagina. The structure located on the phallic region was a superficial lipomatous nevus, and the other mass was a congenital urethral caruncle with ectopic migration/differentiation of colonic epithelium into ventral and anterior part of the urogenital sinus. Both genital lipomas and congenital caruncles of the female urethra are very rare and their etiology is unknown. There is no previous report of coincidence of these two rare findings in an otherwise healthy girl.
引用
收藏
页码:233 / 236
页数:4
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