Van wyk-grumbach syndrome: A case series demonstrating the diverse clinical spectrum of severe primary hypothyroidism mimicking ovarian and pituitary pathology

Introduction

Van Wyk–Grumbach syndrome (VWGS) is a rare but reversible complication of long-standing untreated primary hypothyroidism. It presents as gonadotropin independent precocious puberty, severe abdominal pain (enlarged multicystic ovaries), short stature, delayed bone age, and pituitary enlargement. [1] Due to its rarity, it is often mistaken for ovarian malignancy and pituitary tumors, leading to inappropriate surgery. Case Series: We present three cases with different clinical presentations. First presenting with precocious puberty, second with severe abdominal pain due to enlarged multicystic ovaries, and third was referred following ovarian cystectomy. Biochemical evaluation revealed severe primary hypothyroidism with markedly elevated thyroid-stimulating hormone and low thyroxine levels. LH levels were low, and FSH levels were normal. All three patients had delayed bone age. Pelvic Ultrasonography showed bilaterally enlarged multicystic ovaries. Pituitary magnetic resonance imaging revealed diffuse pituitary enlargement in two patients and a sellar–suprasellar lesion in one patient, initially suspected to be a pituitary macroadenoma. Levothyroxine therapy was initiated in all three patients. Subsequent regression of pubertal features and improvement in thyroid function in all three patients confirmed the diagnosis of VWGS.