Differential Diagnoses

Addison Disease
Chronic cholestatic liver disease (some cases)
Chronic renal insufficiency
Familial hypocalciuric hypercalcemia
Heart block
Humoral hypercalcemia of malignancy
Hyperparathyroidism jaw tumor syndrome
Immobilization
Jansen metaphyseal chondrodysplasia
Lithium treatment
Pediatric Chronic Granulomatous Disease
Pediatric Multiple Endocrine Neoplasia
Radiation, especially of the head and neck for malignancy
Thyrotoxicosis
Vitamin Toxicity
Williams Syndrome

Workup

Mallet E, Working Group on Calcium Metabolism. Primary hyperparathyroidism in neonates and childhood. The French experience (1984-2004). Horm Res. 2008. 69 (3):180-8. [QxMD MEDLINE Link].
Belcher R, Metrailer AM, Bodenner DL, Stack BC Jr. Characterization of hyperparathyroidism in youth and adolescents: a literature review. Int J Pediatr Otorhinolaryngol. 2013 Mar. 77 (3):318-22. [QxMD MEDLINE Link].
Hsu SC, Levine MA. Primary hyperparathyroidism in children and adolescents: the Johns Hopkins Children's Center experience 1984-2001. J Bone Miner Res. 2002 Nov. 17 Suppl 2:N44-50. [QxMD MEDLINE Link].
Roizen J, Levine MA. Primary hyperparathyroidism in children and adolescents. J Chin Med Assoc. 2012 Sep. 75 (9):425-34. [QxMD MEDLINE Link].
Kollars J, Zarroug AE, van Heerden J, Lteif A, Stavlo P, Suarez L, et al. Primary hyperparathyroidism in pediatric patients. Pediatrics. 2005 Apr. 115 (4):974-80. [QxMD MEDLINE Link].
Lawson ML, Miller SF, Ellis G, Filler RM, Kooh SW. Primary hyperparathyroidism in a paediatric hospital. QJM. 1996 Dec. 89 (12):921-32. [QxMD MEDLINE Link].
Alagaratnam S, Brain C, Spoudeas H, Dattani MT, Hindmarsh P, Allgrove J, et al. Surgical treatment of children with hyperparathyroidism: single centre experience. J Pediatr Surg. 2014 Nov. 49 (11):1539-43. [QxMD MEDLINE Link].
Mancilla EE, Levine MA, Adzick NS. Outcomes of minimally invasive parathyroidectomy in pediatric patients with primary hyperparathyroidism owing to parathyroid adenoma: A single institution experience. J Pediatr Surg. 2016 Feb 4. [QxMD MEDLINE Link].
Thakker RV. Genetics of parathyroid tumours. J Intern Med. 2016 Jun 16. [QxMD MEDLINE Link].
Starker LF, Akerström T, Long WD, Delgado-Verdugo A, Donovan P, Udelsman R, et al. Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer. 2012 Apr. 3 (1-2):44-51. [QxMD MEDLINE Link].
Davidson JT, Lam CG, McGee RB, Bahrami A, Diaz-Thomas A. Parathyroid Cancer in the Pediatric Patient. J Pediatr Hematol Oncol. 2016 Jan. 38 (1):32-7. [QxMD MEDLINE Link].
Roizen J, Levine MA. A meta-analysis comparing the biochemistry of primary hyperparathyroidism in youths to the biochemistry of primary hyperparathyroidism in adults. J Clin Endocrinol Metab. 2014 Dec. 99 (12):4555-64. [QxMD MEDLINE Link].
Ruda JM, Hollenbeak CS, Stack BC Jr. A systematic review of the diagnosis and treatment of primary hyperparathyroidism from 1995 to 2003. Otolaryngol Head Neck Surg. 2005 Mar. 132 (3):359-72. [QxMD MEDLINE Link].
Reh CM, Hendy GN, Cole DE, Jeandron DD. Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet. J Clin Endocrinol Metab. 2011 Apr. 96 (4):E707-12. [QxMD MEDLINE Link].
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, et al. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013 Jun 27. 368 (26):2476-86. [QxMD MEDLINE Link].
Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013 Jan. 45 (1):93-7. [QxMD MEDLINE Link].
Nicholson KJ, McCoy KL, Witchel SF, Stang MT, Carty SE, Yip L. Comparative characteristics of primary hyperparathyroidism in pediatric and young adult patients. Surgery. 2016 Oct. 160 (4):1008-16. [QxMD MEDLINE Link].
Christensen SE, Nissen PH, Vestergaard P, Mosekilde L. Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes. 2011 Dec. 18 (6):359-70. [QxMD MEDLINE Link].
Benaderet AD, Burton AM, Clifton-Bligh R, Ashraf AP. Primary hyperparathyroidism with low intact PTH levels in a 14-year-old girl. J Clin Endocrinol Metab. 2011 Aug. 96(8):2325-9. [QxMD MEDLINE Link]. [Full Text].
Yao K, Singer FR, Roth SI, Sassoon A, Ye C, Giuliano AE. Weight of normal parathyroid glands in patients with parathyroid adenomas. J Clin Endocrinol Metab. 2004 Jul. 89 (7):3208-13. [QxMD MEDLINE Link].
Wilhelm-Bals A, Parvex P, Magdelaine C, Girardin E. Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism. Pediatrics. 2012 Mar. 129(3):e812-6. [QxMD MEDLINE Link].
Gannon AW, Monk HM, Levine MA. Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. J Clin Endocrinol Metab. 2014 Jan. 99 (1):7-11. [QxMD MEDLINE Link].
Available at http://www.fda.gov/Drugs/DrugSafety/ucm340551.html.
Blair JW, Carachi R. Neonatal primary hyperparathyroidism--a case report and review of the literature. Eur J Pediatr Surg. 1991 Apr. 1 (2):110-4. [QxMD MEDLINE Link].
Mancilla EE, Levine MA, Adzick NS. Outcomes of minimally invasive parathyroidectomy in pediatric patients with primary hyperparathyroidism owing to parathyroid adenoma: A single institution experience. J Pediatr Surg. 2017 Jan. 52 (1):188-191. [QxMD MEDLINE Link].
Nussbaum SR, Thompson AR, Hutcheson KA, Gaz RD, Wang CA. Intraoperative measurement of parathyroid hormone in the surgical management of hyperparathyroidism. Surgery. 1988 Dec. 104 (6):1121-7. [QxMD MEDLINE Link].
Carneiro DM, Solorzano CC, Nader MC, Ramirez M, Irvin GL 3rd. Comparison of intraoperative iPTH assay (QPTH) criteria in guiding parathyroidectomy: which criterion is the most accurate?. Surgery. 2003 Dec. 134 (6):973-9; discussion 979-81. [QxMD MEDLINE Link].
Bilezikian JP, Brandi ML, Eastell R, Silverberg SJ, Udelsman R, Marcocci C, et al. Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the Fourth International Workshop. J Clin Endocrinol Metab. 2014 Oct. 99 (10):3561-9. [QxMD MEDLINE Link].
Udelsman R, Åkerström G, Biagini C, Duh QY, Miccoli P, Niederle B, et al. The surgical management of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. J Clin Endocrinol Metab. 2014 Oct. 99 (10):3595-606. [QxMD MEDLINE Link].

Media Gallery

Normal parathyroid glands as seen during a thyroidectomy. The large arrow points to the superior parathyroid. The thinner arrow points to the inferior parathyroid. The forceps points toward the recurrent laryngeal nerve. The patient's head is toward the right.

of 1

Table 1. Causes of hyperparathyroidism

Table 1. Causes of hyperparathyroidism

Cause	Gene	OMIM
1. Neonate/Infant
Primary
- Familial hypocalciuric hypercalcemia	Heterozygous inactivating CASR mutations	145980
- Neonatal severe hyperparathyroidism	Homozygous inactivating CASR mutations	239200
Secondary
- Maternal hypoparathyroidism
- Maternal pseudohypoparathyroidism
- Maternal Vitamin D deficiency

2. Child/adolescent
Primary
- Sporadic adenomas
- Familial
* Familial hypocalciuric hypercalcemia (FHH)	CASR	145980
* Multiple Endocrine Neoplasia type 1 (MEN1)	MEN1	131100
* Multiple Endocrine Neoplasia type 2a	RET	171400
* Multiple Endocrine Neoplasia type 4	CDKN1B	610755
* Familial hyperparathyroidism jaw tumor syndrome (HRPT2)	CDC73	145001

- Autoantibodies to the CASR
Secondary
- Renal failure/post renal transplant
- Chronic hyperphosphatemia
- Vitamin D deficiency
* Nutritional
* Malabsorption
-Vitamin D dependent rickets type 1 VDDR1	CYP27B1	264700

- Vitamin D dependent rickets type 2 VDDR2	Vitamin D receptor	277440

-Other causes of hypocalcemia
Poor intake Drugs

Back to List

Author

Edna E Mancilla, MD Associate Professor of Clinical Pediatrics, Perelman School of Medicine at the University of Pennsylvania; Attending Physician in Pediatric Endocrinology, The Children's Hospital of Philadelphia

Edna E Mancilla, MD is a member of the following medical societies: American Society for Bone and Mineral Research, Chilean Society of Endocrinology and Diabetes, Chilean Society of Osteology and Mineral Metabolism, Endocrine Society, Latin American Society of Pediatric Endocrinology, Pediatric Endocrine Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: IPSEN Biopharmaceuticals Inc<br/>Research support for: Clementia/Ipsen pharmaceuticals.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, American College of Endocrinology

Disclosure: Nothing to disclose.

Chief Editor

Sasigarn A Bowden, MD Professor of Pediatrics, Section of Pediatric Endocrinology, Metabolism and Diabetes, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Endocrinology, Nationwide Children’s Hospital; Affiliate Faculty/Principal Investigator, Center for Clinical Translational Research, Research Institute at Nationwide Children’s Hospital

Sasigarn A Bowden, MD is a member of the following medical societies: American Society for Bone and Mineral Research, Central Ohio Pediatric Society, Endocrine Society, International Society for Pediatric and Adolescent Diabetes, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Gordon L Klein, MD, MPH Clinical Professor of Orthopedic Surgery and Rehabilitation, University of Texas Medical Branch School of Medicine

Gordon L Klein, MD, MPH is a member of the following medical societies: American Academy of Pediatrics, American Society for Nutrition, American Gastroenterological Association, American Pediatric Society, American Society for Bone and Mineral Research, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Society for Pediatric Research

Disclosure: Nothing to disclose.

Phyllis W Speiser, MD Chief, Division of Pediatric Endocrinology, Steven and Alexandra Cohen Children's Medical Center of New York; Professor of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell

Phyllis W Speiser, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Pediatric Hyperparathyroidism Differential Diagnoses

Differential Diagnoses

References

Tables

Contributor Information and Disclosures

What would you like to print?