Pituitary Hyperplasia in a Boy with Van Wyk–Grumbach Syndrome due to Long-standing Hypothyroidism

Abstract

AbstractVan Wyk–Grumbach syndrome (VWGS) is characterized by juvenile hypothyroidism, delayed bone age, and pseudo-precocious puberty. Primary hypothyroidism in the juvenile population generally leads to retardation of linear growth and delayed puberty. However, in rare conditions, children with long-standing hypothyroidism present with signs of VWGS. It can occur in both sexes. In girls, the usual presenting features are early-onset menarche and enlarged bilateral multicystic ovaries, whereas in boys it is rarely associated with testicular enlargement. We present an unusual case of an 8-year-old boy who was referred to us with a pituitary tumor (macroadenoma) and later on diagnosed as having long-standing untreated congenital hypothyroidism with testicular enlargement and pituitary hyperplasia. Eight months after thyroxine replacement therapy, repeat magnetic resonance imaging shows complete resolution of pituitary hyperplasia.