Medical Professional Publications

Endocrinology Issues in Children With Williams Syndrome

Columbus, OH — January 2017

Williams syndrome is a genetic disorder characterized by distinctive facial features, intellectual disability, excessive sociability, cardiovascular problems and some endocrinology-related issues.

Manmohan K. Kamboj, MD, interim division chief of the Division of Endocrinology at Nationwide Children’s Hospital, bought attention to the endocrinology related concerns seen in children with William’s syndrome at the 2016 Annual William's Syndrome Association Conference, which was held in July in Columbus, Ohio.

“Patients with Williams syndrome have multiple medical concerns and needs. The ideal set up for management of these patients is in the setting of a multidisciplinary specialty clinic which offers access to primary care providers, behavioral health experts, cardiologists, geneticists and endocrinologists,” says Dr. Kamboj, who is an associate professor at The Ohio State University College of Medicine. “There may be concerns with growth, thyroid function, puberty, and hypercalcemia that may be best managed by important input from an endocrinologist so that the patients and families may have access to the best care options.”      

This year’s annual Williams syndrome conference comprised a professional component in addition to a conference for patients and families. It was organized by the Williams Syndrome Association in conjunction with Jennifer R. Walton, MD, who leads the multidisciplinary Williams Syndrome Clinic at Nationwide Children’s as a member of the Section of Developmental and Behavioral Pediatrics. The professional conference brought together many primary care physicians, specialists and other care providers in July. Dr. Kamboj presented at both the professional conference and the patients/family conference.

Dr. Kamboj highlighted the multiple endocrine related concerns that may be seen in these children:   

  • Hypercalcemia — The most well-recognized clinical endocrinology feature of Williams syndrome, it often resolves in childhood; hypercalciuria and associated nephrocalcinosis may occur.
  • Growth concerns — These concerns may include intrauterine growth restriction, failure to thrive, and poor linear growth/short stature. Patients with Williams syndrome should be evaluated using syndrome-specific growth charts for optimal evaluation.
  • Precocious puberty — Early puberty may be seen in males and females with Williams syndrome. The decision to treat is made after in-depth discussion between family members and the endocrinologist.
  • Hypothyroidism — Subclinical hypothyroidism may occur in patients, most commonly in the younger age group. Thyroid hormone replacement is usually not required, but thyroid function tests should be administered every four years if normal or sooner if suspicious for hypothyroidism.
  • Glucose metabolism issues — Impaired glucose tolerance has been reported in many adult patients, while mild basal hyperglycemia and type 1 diabetes can also occur.

Kamboj, M. “Williams Syndrome: The Endocrine Perspective for Health Care Providers.” Williams Syndrome Association 2016 Professional Conference; July 7-8; Columbus, OH. 

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