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Neonatal hyperparathyroidism

MedGen UID:
576900
•Concept ID:
C0345406
•
Disease or Syndrome
SNOMED CT: Neonatal hyperparathyroidism (254119005)

Professional guidelines

PubMed

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B, Schnabel D, Dörr HG, Schöfl C
Eur J Endocrinol 2016 May;174(5):R189-208. Epub 2015 Dec 8 doi: 10.1530/EJE-15-1028. PMID: 26646938
Surgical management of severe neonatal hyperparathyroidism: one center's experience.
Al-Shanafey S, Al-Hosaini R, Al-Ashwal A, Al-Rabeeah A
J Pediatr Surg 2010 Apr;45(4):714-7. doi: 10.1016/j.jpedsurg.2009.08.005. PMID: 20385276

Recent clinical studies

Etiology

Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A, Madariaga L, Gómez-Conde S, González P, Grau G, Rica I, de Nanclares GP, De la Hoz AB, Aguayo A, Martínez R, Urrutia I, Gaztambide S; Calcium Phosphorus Metabolism Molecular Biology Group, Castaño L
Front Endocrinol (Lausanne) 2024;15:1297614. Epub 2024 Mar 22 doi: 10.3389/fendo.2024.1297614. PMID: 38586466Free PMC Article
Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.
Höppner J, Lais S, Roll C, Wegener-Panzer A, Wieczorek D, Högler W, Grasemann C
Front Endocrinol (Lausanne) 2021;12:700612. Epub 2021 Oct 1 doi: 10.3389/fendo.2021.700612. PMID: 34659108Free PMC Article
Bartter's and Gitelman's syndrome.
Seyberth HW, Weber S, Kömhoff M
Curr Opin Pediatr 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. PMID: 27906863
Surgical management of severe neonatal hyperparathyroidism: one center's experience.
Al-Shanafey S, Al-Hosaini R, Al-Ashwal A, Al-Rabeeah A
J Pediatr Surg 2010 Apr;45(4):714-7. doi: 10.1016/j.jpedsurg.2009.08.005. PMID: 20385276
Hereditary neonatal hyperparathyroidism.
Thompson NW, Carpenter LC, Kessler DL, Nishiyama RH
Arch Surg 1978 Jan;113(1):100-3. doi: 10.1001/archsurg.1978.01370130102020. PMID: 619857

Diagnosis

Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A, Madariaga L, Gómez-Conde S, González P, Grau G, Rica I, de Nanclares GP, De la Hoz AB, Aguayo A, Martínez R, Urrutia I, Gaztambide S; Calcium Phosphorus Metabolism Molecular Biology Group, Castaño L
Front Endocrinol (Lausanne) 2024;15:1297614. Epub 2024 Mar 22 doi: 10.3389/fendo.2024.1297614. PMID: 38586466Free PMC Article
Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.
Hassan SS, Kempers M, Lugtenberg D, Abdallah AT, Musa SA, Ibrahim AA, Abdullah MA
Pan Afr Med J 2021;40:105. Epub 2021 Oct 15 doi: 10.11604/pamj.2021.40.105.29527. PMID: 34887979Free PMC Article
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC
Orphanet J Rare Dis 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. PMID: 28122587Free PMC Article
Bartter's and Gitelman's syndrome.
Seyberth HW, Weber S, Kömhoff M
Curr Opin Pediatr 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. PMID: 27906863
Hereditary neonatal hyperparathyroidism.
Thompson NW, Carpenter LC, Kessler DL, Nishiyama RH
Arch Surg 1978 Jan;113(1):100-3. doi: 10.1001/archsurg.1978.01370130102020. PMID: 619857

Therapy

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature.
Forman TE, Niemi AK, Prahalad P, Shi RZ, Nally LM
J Pediatr Endocrinol Metab 2019 Mar 26;32(3):305-310. doi: 10.1515/jpem-2018-0307. PMID: 30730839
Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.
Reh CM, Hendy GN, Cole DE, Jeandron DD
J Clin Endocrinol Metab 2011 Apr;96(4):E707-12. Epub 2011 Feb 2 doi: 10.1210/jc.2010-1306. PMID: 21289269
Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant.
Fox L, Sadowsky J, Pringle KP, Kidd A, Murdoch J, Cole DE, Wiltshire E
Pediatrics 2007 Nov;120(5):e1350-4. doi: 10.1542/peds.2006-3209. PMID: 17974727
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN
J Clin Endocrinol Metab 2007 Jul;92(7):2616-23. Epub 2007 May 1 doi: 10.1210/jc.2007-0123. PMID: 17473068
Neonatal hyperparathyroidism due to maternal hypoparathyroidism and vitamin D deficiency: a cause of multiple bone fractures.
Alikasifoglu A, Gonc EN, Yalcin E, Dogru D, Yordam N
Clin Pediatr (Phila) 2005 Apr;44(3):267-9. doi: 10.1177/000992280504400312. PMID: 15821853

Prognosis

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.
Höppner J, Lais S, Roll C, Wegener-Panzer A, Wieczorek D, Högler W, Grasemann C
Front Endocrinol (Lausanne) 2021;12:700612. Epub 2021 Oct 1 doi: 10.3389/fendo.2021.700612. PMID: 34659108Free PMC Article
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.
Savas-Erdeve S, Sagsak E, Keskin M, Magdelaine C, Lienhardt-Roussie A, Kurnaz E, Cetinkaya S, Aycan Z
J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1103-10. doi: 10.1515/jpem-2015-0261. PMID: 27390877
Neonatal hyperparathyroidism.
Dezateux CA, Hyde JC, Hoey HM, O'Riordan JL, Spitz L, Taylor GW, Grant DB
Eur J Pediatr 1984 Jun;142(2):135-6. doi: 10.1007/BF00445595. PMID: 6468429
Hereditary neonatal hyperparathyroidism.
Thompson NW, Carpenter LC, Kessler DL, Nishiyama RH
Arch Surg 1978 Jan;113(1):100-3. doi: 10.1001/archsurg.1978.01370130102020. PMID: 619857
Primary neonatal hyperparathyroidism. Report of a case and review of the literature.
Rhone DP
Am J Clin Pathol 1975 Oct;64(4):488-99. doi: 10.1093/ajcp/64.4.488. PMID: 1106178

Clinical prediction guides

Is calcium signaling relevant for long bone growth?
Marcucci G, Masi L, Cavalli L, Fossi C, Franceschelli F, Brandi ML
Bone 2013 Nov;57(1):105-10. Epub 2013 Jul 25 doi: 10.1016/j.bone.2013.07.008. PMID: 23891851
The natural history and osteodystrophy of mucolipidosis types II and III.
David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D
J Paediatr Child Health 2010 Jun;46(6):316-22. Epub 2010 Mar 29 doi: 10.1111/j.1440-1754.2010.01715.x. PMID: 20367762Free PMC Article
Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.
Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. doi: 10.1515/jpem.2006.19.6.859. PMID: 16886594
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.
Bai M, Pearce SH, Kifor O, Trivedi S, Stauffer UG, Thakker RV, Brown EM, Steinmann B
J Clin Invest 1997 Jan 1;99(1):88-96. doi: 10.1172/JCI119137. PMID: 9011580Free PMC Article
Primary neonatal hyperparathyroidism. Report of a case and review of the literature.
Rhone DP
Am J Clin Pathol 1975 Oct;64(4):488-99. doi: 10.1093/ajcp/64.4.488. PMID: 1106178

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