VAN WYK-GRUMBACH SYNDROME- A CASE REPORT

Abstract

Van Wyk-Grumbach Syndrome (VWGS) is an exceptional clinical entity defined by the triad of untreated juvenile primary hypothyroidism, isosexual precocious puberty, and bilateral multicystic ovarian enlargement. While typical central precocious puberty is characterized by accelerated skeletal maturation and increased linear growth, VWGS is uniquely distinguished by significant growth retardation and delayed bone age. This report describes a female child in her ninth year, born out of a 3rd degree consanguineous marriage, who presented with abdominal distension and vaginal spotting. Investigations revealed ovarian cyst, profound primary autoimmune hypothyroidism (TSH >100 uIU/ml) and a pathognomonic bone age delay. Initiation of levothyroxine replacement therapy facilitated the stabilization of pubertal progression and initiated regression of ovarian masses. This case highlights the necessity of systematic endocrine screening in paediatric adnexal masses to prevent unnecessary surgical interventions which was planned earlier and ensure correct diagnostic pathways and the right treatment with thyroxine reversed all the pathology.