ABSTRACT
Bilateral gonadectomy was the historical recommendation for patients diagnosed with complete androgen insensitivity syndrome (CAIS) due to the perceived risk of malignancy in the gonads. However, new shared-decision making approaches are allowing patients to explore the option to defer surgery. Here we report two patients who presented with primary amenorrhea to their primary care provider (PCP). After imaging and karyotyping, these patients were diagnosed with CAIS. They underwent exams under anesthesia and diagnostic laparoscopies in which the gonads did not present any immediate concerns or indications for removal. After discussing their options using the shared-decision making approach with the differences in sex development (DSD) team, they opted to defer gonadectomy and follow up annually with imaging to monitor the gonads.
ABSTRACT
Caring for patients with congenital pelvic anomalies can be challenging in many ways but one crucial aspect is providing longitudinal into adulthood. Newborns with urinary, intestinal or vaginal obstruction require urgent operations to relieve obstruction followed by multiple reconstructive procedures involving the perineum. Openings are created in the pelvic floor musculature that did not exist in development. Adolescence presents further challenges for these postoperative patients while other diagnoses present for the first time in the peri-pubertal teenage years. Young adults can have new symptoms when they become sexually active and are faced with reproductive decisions. During all of these time periods, optimization of function is of paramount importance and patients who are suffering are not able to participate in school, sports or work. This study evaluates the prevalence of pelvic pain in newborns and adolescents with complex congenital pelvic anomalies, associated factors and possible treatment options.
