Brasileiro Luciana Ferreira, Dias Pereira Luis Antonio Violin, Miranda Márcio Lopes, de Freitas Leandro Luiz Lopes, Marques-de-Faria Antonia Paula, Maciel-Guerra Andrea Trevas, Guerra-Junior Gil
J Pediatr Endocrinol Metab. 2016 Feb;29(2):233-6. doi: 10.1515/jpem-2015-0165.
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.
我们报告了一例46,XX女婴的病例，该女婴3个月大时因外生殖器模糊且未触及性腺而前来评估。阴茎被一个覆盖着皮肤的均匀蒂状结构所取代，在尿道口上方的小阴唇之间以及阴道口处，有一个覆盖着黏膜的第二个蒂状结构。没有相关的异常情况，她生长和神经运动发育正常。在切除这些结构的手术过程中，发现了一个双叉阴蒂，膀胱镜检查和阴道镜检查显示女性尿道和阴道正常。位于阴茎区域的结构是一个浅表脂肪瘤性痣，另一个肿物是先天性尿道肉阜，伴有结肠上皮异位迁移/分化至泌尿生殖窦的腹侧和前部。女性尿道的生殖器脂肪瘤和先天性肉阜都非常罕见，其病因尚不清楚。此前没有关于这两种罕见发现同时出现在一个其他方面健康的女孩身上的报告。
