Van Wyk-Grumbach Syndrome: case report and review of thr literature

Abstract

Van Wyk-Grumbach syndrome (VWGS) is a rare cause of precocious puberty due to long-standing hypothyroidism. We report an 8-year-old girl presenting with vaginal bleeding. She had short stature and normal bone age. Pelvic ultrasound showed enlarged multicystic ovaries and cranial imaging revealed pituitary hyperplasia. Laboratory results showed elevated follicle-stimulating hormone with suppressed luteinizing hormone, hyperestrogenism, and hyperprolactinemia. Subsequent evaluation revealed severe autoimmune hypothyroidism. Based on the clinical findings and imaging VWGS was diagnosed and showed excellent response to thyroid replacement therapy. Hypothyroidism should be considered in prepubertal females with incomplete precocious puberty even in patients with a normal bone age.