Van Wyk Grumbach Syndrome: A Saga of Mistaken Identity

BackgroundIn 1960, Van Wyk and Grumbach described a triad of juvenile hypothyroidism, precocious puberty and ovarian enlargement called Van Wyk Grumbach syndrome (VWG). These juvenile girls presented with delayed bone and enlarged and multi-cystic ovaries mimicking a germ cell tumor in the background of raised tumor markers. There is no role of surgery in this entity. These findings including raised tumor markers undergo complete regression with sequentially increasing doses of thyroid hormone replacement therapy.Case ReportWe report here a case of a 12-year-old girl who was referred to us with a USG finding of large Rt. ovarian mass and raised tumor markers for surgery of germ cell tumor by Gynec oncosurgeon. She had presented with pain in abdomen and heavy menstrual bleeding in her last cycle. Clinically, she was short stature with dry and coarse skin and low average IQ. There was a large abdomino-pelvic mass corresponding to 24 weeks gravid uterus on abdominal examination. She was found to have severe hypothyroidism and delayed bone age on evaluation confirming the diagnosis of VWG syndrome. She was supplemented with 75 & mu;g of thyroxine with resolution of symptoms within 3 months of starting treatment.ConclusionVWG syndrome though uncommon should be kept in mind whenever a pre-pubertal girl presents with large multi-cystic ovaries in the background of hypothyroidism. There is no role of surgery in this entity and supplementing thyroxin results in complete resolution of symptoms including tumor markers which otherwise cause lot of anxiety to the parents and treating physicians.

Automated summary

Van Wyk Grumbach syndrome is a rare condition characterized by precocious puberty, hypothyroidism, and ovarian enlargement. Symptoms associated with elevated tumor markers can be completely resolved with thyroid hormone replacement therapy, without the need for surgery.