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A Female Pediatric Patient with Bilateral Ovarian Cysts Presenting to Gynecologic Oncology Diagnosed as Van Wyk-Grumbach Syndrome: A Case Report

Author(s): Bayley Richardson, Archana Ayyar, Leigh Hickham, Chinnadurai Mani, Komaraiah Palle, Mark Reedy

We describe a case of a 7-year-old female who presented to the emergency department (ED) with a three-day history of vaginal bleeding, progressive abdominal pain, and dehydration. Initial computerized tomography (CT) scan of the abdomen followed by a transabdominal ultra-sound of the pelvis identified bilateral, symmetric adnexal cysts and proliferative-phase endometrium with no evidence of inflammatory or malignancy-related findings. A gynecologic oncology consult led to surgical exploration diagnosing the child with an acute surgical abdomen. Surgery was performed through a vertical infra-umbilical, mini-laparotomy (4 cm) incision. Both intra-operative and final pathology confirmed bilateral ovarian, low malignant potential (LMP), granulosa cell tumors. Postoperative bone age was over 18 months less than the patient’s age. The discrepant bone age prompted investigation into pediatric syndromes characterized by juvenile hypothyroidism, isosexual precocious puberty, and granulosa cell tumors with delayed bone age. A rare diagnosis matching all criteria was identified as Van Wyk-Grumbach Syndrome (VW-GS). This syndrome was originally reported in 1960 by Drs. Van Wyk and Grumbach. They identified the discrepancies in bone age and how simple thyroid replacement results in complete resolution of this unique syndrome. Our literature review found few reports related to VWGS in the gynecologic oncology case studies. We hope this report will further assist in the appropriate diagnosis and management of similar cases to avoid unnecessary and invasive interventions and treatment.

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