VAN WYK–GRUMBACH SYNDROME – AN UNCOMMON PRESENTATION OF SEVERE HYPOTHYROIDISM

Abstract

Van Wyk–Grumbach Syndrome is a rare paediatric disorder in which longstanding severe hypothyroidism paradoxically leads to isosexual precocious puberty. Affected children, predominantly girls, commonly present with breast development and vaginal bleeding despite delayed skeletal maturation and growth retardation. We reported the case of a 7-year-old girl presenting with recurrent vaginal bleeding, short stature, lethargy, constipation, and dry skin. Evaluation revealed markedly elevated thyroid-stimulating hormone (TSH), low luteinizing hormone (LH), elevated prolactin, delayed bone age, and bilat- eral multicystic ovaries on ultrasonography. These findings were diagnostic of Van Wyk–Grumbach syndrome. Treatment with levothyroxine resulted in complete resolution of vaginal bleeding, regression of ovarian cysts, and improvement in growth parameters. This case highlights the importance of considering severe hypothyroidism in children presenting with precocious puberty and growth failure, as timely thyroid hormone replacement alone can completely reverse the syndrome and prevent unnecessary surgical intervention.