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

• Main Authors: Shakil Shaikh Resident Medical Officer, Rajesh Joshi Professor and Head
• Format: Article
• Language: English
• Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2016-06-01
• Series: International Journal of Recent Surgical and Medical Sciences
• Subjects: congenital hypothyroidism; kocher–debre–semelaigne syndrome; pituitary hyperplasia; precocious puberty; van wyk–grumbach syndrome
• Online Access: http://www.thieme-connect.de/DOI/DOI?10.5005/jp-journals-10053-0011

Van 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.