Pediatric Bone and Mineral Metabolism Disorders Clinic

Our clinic specializes in the treatment of low bone density, osteoporosis, vitamin D deficiency, rickets and osteomalacia and other disorders affecting bone health and mineral metabolism in infants, children and young adults.

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, 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 MGHfC and Massachusetts General Hospital, including Pediatric Gastroenterology and Nutrition, Adolescent Medicine and Pediatric Orthopaedics.

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

  • Osteoporosis and osteopenia
  • 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 steroid use
    • Limited weight-bearing states

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
  • Bisphosphonate infusions
  • Physical therapy

Our Research

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

Our seminal findings at MGHfC 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 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
  • Assessing the effects of estrogen and IGF-1 replacement on bone health in girls with anorexia nervosa
  • 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; psudohypoparathyroidism; hypo- and hyperphosphatemic disorders; primary kidney disease; and collagen abnormalities.

For more information, visit our research websites at www.aneresearch.com or http://clinicaltrials.partners.org.

Doctors

  • Goldenberg, Paula C., MD

    617-726-1561

    Accepting New Patients

    Clinical Interests
    • Laryngeal Surgery
    • DiGeorge Syndrome
    • Velo-Cardio-Facial Syndrome (VCFS)
    • Prenatal Testing and Diagnosis
    • Stickler/Marshall Syndrome
    • Genetics
    • Genetic testing
    Board Certifications
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    • Pediatrics, American Board of Pediatrics
    Locations
    • Boston: Pediatric Genetics
  • Grottkau, Brian Edward, MD

    617-726-8523

    Accepting New Patients

    Clinical Interests
    • Pediatric orthopaedics
    • Pediatric sport injuries
    • Pediatric fractures
    • Pediatric spine surgery
    • Adult spine surgery
    • Scoliosis
    • Clubfoot
    • Hip and leg abnormalities
    • Alignment disorders
    • Cerebral palsy
    • Hip dysplasia
    • Hip morphology and function
    • Neuromuscular disorders
    • Pediatric and adolescent hip disease
    • Pediatric trauma
    Board Certifications
    • Orthopaedic Surgery, American Board of Orthopedic Surgery
    Locations
    • Boston: Orthopaedic Spine Center
    • Danvers: Mass General/North Shore Center for Outpatient Care
  • Jueppner, Harald W., MD

    617-726-2908

    Accepting New Patients

    Clinical Interests
    • Endocrinology
    • Nephrology
    • Renal osteodystrophy
    • Hypertension
    • Pediatric Hypertension
    • Pediatric Nephrology
    Locations
    • Boston: Pediatric Medicine
  • Misra, Madhusmita, MD, MPH

    617-726-2909

    Accepting New Patients

    Clinical Interests
    • Pituitary disease
    • Cushing's syndrome
    • Neuroendocrinology
    • Pituitary disorders
    • Disorders of calcium and bone
    • Growth and nutritional disorders
    • Female athlete triad
    • Pubertal disorders
    • Pediatric endocrinology
    • Thyroid and adrenal disorders
    • Diabetes mellitus type 1
    • Disorders of sexual differentiation
    • Diabetes
    • Endocrinology
    • Adolescent gynecology
    Board Certifications
    • Pediatric Endocrinology, American Board of Pediatrics
    Locations
    • Boston: Pediatric Endocrine Associates
  • Mitchell, Deborah M., MD

    617-726-2909

    Accepting New Patients

    Clinical Interests
    • Bone and mineral metabolism
    • Type 1 diabetes
    • Pediatric endocrinology
    • Diabetes
    • Endocrinology
    • Thyroid disorders
    • Thyroid and adrenal disorders
    Board Certifications
    • Pediatrics, American Board of Pediatrics
    • Pediatric Endocrinology, American Board of Pediatrics
    Locations
    • Boston: Pediatric Endocrine Associates
  • Neumeyer, Ann M., MD

    781-860-1700

    Accepting New Patients

    Clinical Interests
    • Autism spectrum disorders
    • Spectrum Disorders
    • Child neurology
    • Neuromuscular disorders of children and adults
    • Neurology
    • Pediatric Neurology
    Board Certifications
    • Neurology with Special Qualifications in Child Neurology, American Board of Psychiatry and Neurology
    Locations
    • Lexington: Lurie Center for Autism
  • Paul, Elahna, MD, PhD

    617-726-2908

    Accepting New Patients

    Clinical Interests
    • Pediatric Nephrology
    • Lupus nephritis
    • Genetic diseases of the kidney
    • Tuberous sclerosis complex
    • Lowe Syndrome
    • Hypertension
    • Pediatric Hypertension
    • Nephrology
    Board Certifications
    • Pediatric Nephrology, American Board of Pediatrics
    Locations
    • Boston: Pediatric Nephrology Associates
    • Braintree: Mass General Hospital for Children - Braintree
    • Concord: Emerson Hospital Center for Specialty Care
  • Sharma, Amita, MD

    617-726-2908

    Accepting New Patients

    Clinical Interests
    • Genetic disorders affecting the regulation of mineral ion ho
    • Chronic kidney disease
    • Kidney stone disease
    • Glomerular disease
    • Transplantation
    • Hypertension
    • Pediatric Hypertension
    • Nephrology
    • Pediatric Nephrology
    Board Certifications
    • Pediatrics, American Board of Pediatrics
    • Pediatric Nephrology, American Board of Pediatrics
    Locations
    • Boston: Pediatric Nephrology Associates

Patient Resources

Clinical Trials

Seeking girls 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 girls ages 10-16 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 $150

If interested, contact Signe Caksa
Pediatric Endocrine Unit
Massachusetts General Hospital
617-643-2087
healthybones@partners.org
or visit our website.

Healthy girls wanted for a research study of bone density

We are interested in the effect of type 1 diabetes (juvenile diabetes) on bone density. We are looking for healthy girls ages 10-16 years without diabetes in order to compare them to girls 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 $150

If interested, contact Signe Caksa
Pediatric Endocrine Unit
Massachusetts General Hospital
617-643-2087
healthybones@partners.org
or visit our website.

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