Ovarian cysts, vaginal bleeding and hypothyroidism in a 4-year-old female with Down Syndrome: A case of Van Wyk-Grumbach Syndrome

摘要

Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism. We report here a four-year-old Down Syndrome patient who presented for evaluation of abdominal distension, vaginal bleeding, and bilateral ovarian cysts. Her work-up and management demonstrates the importance of screening for hypothyroidism in Down Syndrome, as well as considering the diagnosis of VWGS when evaluating a patient with precocious puberty and an apparent intra-abdominal surgical process. Given the presence of ovarian masses, a surgical emergency such as ovarian torsion or rupture must be ruled out. Even when the diagnosis of VWGS is confirmed, practitioners must be vigilant to consider surgical intervention in the presence of uncontrolled vaginal bleeding, hemodynamic instability, or failure of regression of ovarian cysts with exogenous thyroid hormone replacement. Highlights ? Precocious puberty in Down Syndrome may be consistent with hypothyroidism. ? Bilateral ovarian pathology can indicate an endocrine etiology. ? Surgical intervention may be unnecessary for Van Wyk-Grumbach Syndrome (VWGS). ? VWGS can be managed successfully with thyroid replacement and clinical follow-up.