Van Wyk-Grumbach syndrome with hemangioma in an infant.

Abstract

Background Van Wyk-Grumbach syndrome (VWGS) is characterized by juvenile primary hypothyroidism, delayed bone age and isosexual incomplete precocious puberty with reversal to the prepubertal state following thyroid hormone replacement. Case presentation In this case, an 18-month-old girl presented with premature menarche since 9 months of age, delayed bone age and enlarged bilateral multicystic ovaries along with a superficial infantile hemangioma over the upper anterior chest. VWGS was diagnosed based on the clinical features. High serum thyroid stimulating hormone and low free thyroxine with the absence of any carpal bones in the wrist X-ray were suggestive of congenital hypothyroidism. Interestingly, the coexisting hemangioma could also play a role in the etiology of the hypothyroidism through "consumptive hypothyroidism". Thyroid hormone replacement resulted in the complete resolution of signs and symptoms. Conclusions Untreated congenital hypothyroidism of short duration, onset of symptoms in infancy and association of an infantile hemangioma in VWGS were the unique features in our case.