ABSTRACT
A 3-year-old female child presented with a history of recurrent urinary tract infections. On general examination, polydactyly and a pelvic mass were present. An imperforate hymen was also documented on vaginal inspection. Further inquiry revealed a positive history of parental consanguinity. A magnetic resonance imaging study defined a hydrometrocolpos responsible for an obstructive cause of the recurrent urinary tract infections. In view of the above, a diagnosis of McKusick-Kaufman syndrome was made. Formal surgical repair of the imperforate hymen with hydrometrocolpos drainage resulted in complete symptom resolution. McKusick-Kaufman syndrome, its presentation, symptoms, differential diagnosis, and underlying genetics were further expanded.
Subject(s)
Abnormalities, Multiple , Heart Defects, Congenital , Hydrocolpos , Polydactyly , Urinary Tract Infections , Urogenital Surgical Procedures/methods , Uterine Diseases , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/physiopathology , Child, Preschool , Congenital Abnormalities , Consanguinity , Drainage/methods , Female , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/physiopathology , Humans , Hydrocolpos/diagnosis , Hydrocolpos/physiopathology , Hymen/abnormalities , Hymen/surgery , Magnetic Resonance Imaging/methods , Menstruation Disturbances/diagnosis , Menstruation Disturbances/surgery , Polydactyly/diagnosis , Polydactyly/physiopathology , Recurrence , Treatment Outcome , Urinary Tract Infections/diagnosis , Urinary Tract Infections/etiology , Urinary Tract Infections/physiopathology , Urinary Tract Infections/therapy , Uterine Diseases/diagnosis , Uterine Diseases/physiopathologyABSTRACT
PURPOSE OF REVIEW: Advances in surgical reconstruction of cloacal malformations have led to better functional outcomes and quality of life. As a result, adolescents and women born with these complex malformations will have the same aspirations as their peers including sexual relationships and fertility. RECENT FINDINGS: Currently, there is a paucity of data on gynaecologic outcomes and sexual function, and obstetric data are limited primarily to case reports. Making evidence-based clinical recommendations is difficult for gynaecologic providers. Unique gynaecologic issues can arise in infancy, adolescence or adulthood. Recognition and appropriate management of these complications is imperative to maximize sexual esteem and preserve future fertility. Pregnancy requires adequate prenatal preparation and specialized multidisciplinary care under an experienced obstetrician and urologist. SUMMARY: This review highlights the issues that may be encountered in providing gynaecologic care to patients with cloacal malformations, presents the available literature to provide informative evidence and identifies gaps in knowledge in order to suggest potential future research opportunities.
