The Paradox of Hypothyroidism and Precocious Puberty: A Case of Van Wyk Grumbach Syndrome as a Clinical Puzzle

Abstract

Van Wyk Grumbach syndrome (VWGS) is a rare presentation of long-standing prepubertal hypothyroidism. It was first described in 1960 by Van Wyk and Grumbach as a syndrome characterized by breast development, multicystic ovaries, and uterine bleeding in a patient with primary hypothyroidism. This report details the case of a 4-year-old female who presented with vaginal bleeding and signs of hypothyroidism, including easy fatigability and cold intolerance. Physical examination revealed short stature and other hypothyroid features. Laboratory tests showed significantly elevated TSH (699 IU/mL ) and prolactin (66.35 ng/mL), with decreased free T3 and T4 levels. Imaging confirmed bilateral multiloculated cystic ovaries and pituitary hyperplasia. An X-ray of the wrist showed a delayed bone age by 12 months, which is a key diagnostic feature distinguishing VWGS from other forms of precocious puberty.
The diagnosis of VWGS was made based on the high TSH levels and radiological findings. Treatment with oral levothyroxine was initiated, leading to the cessation of vaginal bleeding and a gradual decrease in the size of the ovarian cysts after one month. This case emphasises the importance of early recognition of VWGS to prevent unnecessary surgical procedures and to demonstrate that thyroid hormone replacement alone can reverse the symptoms.