Abstract
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both. We present a case of female patient with classical congenital adrenal hyperplasia, diagnosed on the 7th day of life, with ambiguous genitalia, untreated surgically only with hormone therapy by parental decision. The patient, at the age of 5 years and 5 months, came to our observation for a pelvic ultrasound, which revealed retrovesical neoformation with anechoic content and regular walls. We performed the ultrasound examination that showed the dilation of the cervix and the vaginal canal with anechoic finely corpuscolated content in the declining portion, compatible with hydrometrocolpos from probable persistence of the urogenital sinus. The voiding cystourethrography (VCUG) confirmed the ultrasound diagnosis, with evidence of urogenital sinus. In conclusion, ultrasound is the first diagnostic tool, but need to be completed by other technical procedures, which VCUG or magnetic resonance imaging to observe the site of fusion of the urinary and genital tract.
Sommario
La persistenza del seno urogenitale (PUGS) è una rara condizione patologica congenita, caratterizzata da un’anomala comunicazione tra uretra e vagina, la cui incidenza è di 0.6/10.000 neonate. Clinicamente, può rappresentare l’unica malformazione rilevabile o far parte di un quadro sindromico. Si presenta comunemente come una massa pelvica, associata a distensione vescicale e/o idrometrocolpo, ossia dilatazione della vagina e dell’utero causata dall’accumulo di secrezioni cervicali conseguente ad un’ostruzione (imene imperforato, setto vaginale trasverso, atresia vaginale e PGUS). Viene presentato il caso di una paziente di sesso femminile, affetta da Sindrome Adreno-Genitale (SAG) forma classica, diagnosticata al 7° giorno di vita, con genitali ambigui (ipertrofia clitoridea, grandi labbra scrotalizzate) non trattati chirurgicamente per decisione parentale, in terapia ormonale sostitutiva. La paziente, all’età di 5 anni e 5 mesi, giunge alla nostra osservazione per una richiesta di ecografia della regione pelvica richiesta, come consulenza, per una neoformazione retrovescicale a contenuto anecogeno e pareti regolari. L’esame ecografico ha mostrato una dilatazione del collo e del canale vaginale a contenuto anecogeno finemente corpuscolato nella porzione declive, compatibile con idrometrocolpo da verosimile persistenza del seno urogenitale. La cistouretrografia ha confermato il reperto ecografico, con evidenza del seno uro-genitale. In conclusione, l’ecografia è la metodica di prima istanza utilizzata, tuttavia necessita di ulteriori metodiche, quali la Cistouretrografia e/o la Risonanza Magnetica per rilevare il punto di comunicazione tra il tratto urinario ed il tratto genitale.
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The authors thank Billy Samuel Hill for the linguistic review.
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Simonetti, I., Trovato, P., Verde, F. et al. A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome. J Ultrasound 21, 249–252 (2018). https://doi.org/10.1007/s40477-018-0290-9
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DOI: https://doi.org/10.1007/s40477-018-0290-9