Pediatric Bone and Mineral Metabolism Disorders Clinic

Overview

At the Pediatric Bone and Mineral Metabolism Disorders Clinic, we specialize in the treatment of low bone density, osteoporosis, vitamin D deficiency, rickets and osteomalacia, hypoparathyroidism, pseudohypoparathyroidism, and other disorders affecting bone health and mineral metabolism in infants, children and young adults.

Our providers from Pediatric Endocrinology and Pediatric Nephrology work collaboratively to create personalized care plans for patients of all ages, from infants to children to young adults. Providers from Genetics, Pediatric Neurology, and Physical Therapy provide consults as needed. We also collaborate with specialists throughout MGfC and Massachusetts General Hospital, including Pediatric Gastroenterology and Nutrition, Adolescent Medicine, and Pediatric Orthopedics.

Each child’s care plan is shared with primary care providers, appropriate specialists and, most importantly, the child and family to ensure the highest quality of care. We believe that families know their children best, so we involve the family in each step of a child’s care plan. Our clinic also facilitates a seamless transition from pediatric to adult care for older adolescents to ensure ongoing care for their bone health.

Conditions We Treat

• Vitamin D deficiency and other disorders of vitamin D metabolism
• Rickets and osteomalacia
• Disorders of calcium and phosphorus metabolism
• Disorders of the parathyroid gland
• Nephrocalcinosis and kidney stones
• Chronic kidney disease-associated mineral and bone disorders (CKD-MBD)
• Osteogenesis imperfecta (“brittle bone disease”) and other genetic bone disorders
• Low bone density and osteoporosis in conditions, including:
  • Eating disorders, including anorexia nervosa or bulimia
  • Female athlete triad
  • Inflammatory bowel disease (IBD) and celiac disease
  • Autism spectrum disorders
  • Chronic glucocorticoid use
  • Limited weight-bearing states
  • Muscular dystrophies

Services We Offer

• Measurements of bone minerals, vitamin D metabolites, hormones involved in mineral metabolism and screening tests for other medical problems
• Dual-energy X-ray absorptiometry (DXA) scans to measure bone mineral density and bone mineral content using low-energy X-rays, which are reviewed by specialists with expertise in interpreting pediatric bone mineral and bone density test results.
• Genetic testing, including whole exome sequencing for conditions such as osteogenesis imperfecta (brittle bone disease) and other rare disorders affecting bone and mineral metabolism
• Expertise in pediatric use of bone-targeted medications including bisphosphonates
• Physical therapy

Patient Resources

View the full collection of patient resources from the Pediatric Bone and Mineral Metabolism Disorders Clinic at MGfC.

Our Research

The divisions of Pediatric Endocrinology and Pediatric Nephrology at MGfC have a rich tradition of basic and translational scientific investigation in bone metabolism and mineral ion homeostasis.

Our seminal findings at MGfC include the definition of the genetic basis of numerous inherited disorders and exploration of their underlying physiology, and the elucidation of the impact of acquired disorders, such as anorexia nervosa, exercise induced amenorrhea, and chronic kidney disease, on childhood bone accrual and metabolism.

This tradition continues today. Ongoing studies by our physician scientists include:

• Defining the natural history of hypoparathyroidism and associated renal complications
• Investigating bone accrual in youth with Type 1 diabetes
• Comparing the effects of different methods of estrogen replacement on bone health in female athlete triad
• Studying the skeletal effects of bariatric surgery in adolescents and young adults
• Evaluating bone health in boys with autism spectrum disorders and determining the impact of oxytocin administration on their bone accrual
• Defining the molecular causes and clinical characteristics of several inherited disorders, such as hypo- and hyperparathyroidism; pseudohypoparathyroidism; hypo- and hyperphosphatemic disorders; primary kidney disease; and collagen abnormalities

For more information, visit our research websites at www.aneresearch.com or rally.partners.org.

Clinical Trials

Seeking children and adolescents with type 1 diabetes for a research study of bone density

We are interested in the effect of type 1 diabetes on bone density. We are looking for children and young adults ages 6-20 years with type 1 diabetes who are otherwise healthy in order to learn how their bone density changes over time.

Participation includes:

• 3 visits to Massachusetts General Hospital over 2 years
• Blood tests and bone density scans (x-rays)
• Compensation of up to $300

If interested, contact Kate Kilroe
Pediatric Endocrine Unit
Massachusetts General Hospital
617-724-3255
healthybones@partners.org
or visit our website.

Healthy children and adolescents wanted for a research study of bone density

We are interested in the effect of type 1 diabetes on bone density. We are looking for healthy children and young adults ages 6-20 years without diabetes in order to compare them to people with diabetes.

Participation includes:

• 3 visits to Massachusetts General Hospital over 2 years
• Blood tests and bone density scans (x-rays)
• Compensation of up to $300

If interested, contact Kate Kilroe
Pediatric Endocrine Unit
Massachusetts General Hospital
617-724-3255
healthybones@partners.org
or visit our website.

Bone study in overweight teenagers and young adults

Seeking overweight girls and boys 13-25 years old

Our Mission: To understand the effect of weight loss surgery versus no surgery (usual care) on bone density and strength and body composition.

6 total visits over 26 months (and an optional visit), including:

• DXA, CT, and MRI scans
• Physical assessments
• Hormone evaluation
• Up to $2100 stipend

If interested, call Amita Bose at 617-643-0266 or email ANEresearch@partners.org.

Doctors

• Paula C. Goldenberg, MD
• Brian Edward Grottkau, MD
• Harald W. Jueppner, MD
• Madhusmita Misra, MD, MPH
• Deborah M. Mitchell, MD
• Ann Neumeyer, MD
• Elahna Paul, MD, PhD
• Amita Sharma, MD