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Case Reports
. 2024 Jun 8;16(6):e61957.
doi: 10.7759/cureus.61957. eCollection 2024 Jun.

Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome

Janhavi V Thorat  1 , Sampada Tambolkar  1
Affiliations
Case Reports

Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome

Janhavi V Thorat et al. Cureus. .

Abstract

Persistent urogenital sinus (PUGS) presents as a solitary abnormality or is in association with syndromes, such as congenital adrenal hyperplasia (CAH), VACTERL association (common abbreviation for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), Bardet-Beidl syndrome, McKusick-Kaufman syndrome (MKS), and Townes-Brocks syndrome, to name a few. Those affected usually have overlapping phenotypic features of two or more syndromes. Because such children may grow up to be intellectually challenged with multiple other anomalies including gonadal hyperplasia, congenital heart defects, and sensorineural hearing loss, antenatal diagnosis becomes important. Moreover, those who survive into childhood may need a holistic approach to improve their quality of life. This is a rare case of an eight-year-old female child who is a postnatally diagnosed case of congenital heart disease, urogenital sinus with polydactyly, and bilateral hydroureteronephrosis at birth and who is now showing features of multiple overlapping syndromes.

Keywords: foot polydactyly; genetic syndromes; hydroureteronephrosis; overlapping syndromes; urogenital sinus.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Computed tomography (CT) scan of the patient done in the fourth month of life.
Computed tomography (CT) scan of the abdomen and pelvis revealed a large cystic lesion measuring 10 x 6 x 7 cm in the craniocaudal, transverse, and anteroposterior axis, displacing both the urinary bladder and the uterus anteriorly and cranially while also displacing mesenteric vessels and small bowel loops towards its periphery with minimal fluid in the endometrial cavity. This cystic lesion was also causing a mass effect on the distal pelvic ureters, hence causing bilateral hydronephrosis and hydroureters.
Figure 2
Figure 2. Polydactyly seen in the left limb.
Figure 3
Figure 3. Magnetic resonance imaging scan of the abdomen and pelvis done at four years of age showing a dilated, fluid-filled vaginal cavity.
Figure 4
Figure 4. Ultrasonography of the brain done during the neonatal period showed no evidence of intraventricular hemorrhage.
See this image and copyright information in PMC

References

    1. Persistent urogenital sinus: diagnostic imaging for clinical management. What does the radiologist need to know? Valentini AL, Giuliani M, Gui B, et al. Am J Perinatol. 2016;33:425–432. - PubMed
    1. Persistent urogenital sinus. Singh S, Singh P, Singh RJ. J Anat Soc India. 2010;59:242–244.
    1. Congenital adrenal hyperplasia--a continuum of disorders. Hughes IA. Lancet. 1998;352:752–754. - PubMed
    1. The etiology of VACTERL association: current knowledge and hypotheses. Solomon BD. Am J Med Genet C Semin Med Genet. 2018;178:440–446. - PubMed
    1. Kohlhase J. GeneReviews. Seattle, WA: University of Washington; 1993. Townes-Brocks syndrome.

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