- Author: Mini R Abraham, MD; Chief Editor: George T Griffing, MD more...
The goals of pharmacotherapy are to correct calcium deficiency, to prevent complications, and to reduce morbidity. Intravenous calcium is the initial treatment for all patients with severe symptomatic hypocalcemia. Administration of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, remains the mainstay of treatment and should be initiated in every patient with a diagnosis of PHP. Maintaining serum total and ionized calcium levels within the reference range discourages hypercalciuria and suppresses PTH levels to normal. Patients with intracranial calcifications may experience seizures related to chronic neuropathic changes, and they may need antiepileptic medications.[19, 20]
These agents are used for calcium electrolyte supplementation.
Calcium chloride improves nerve and muscle performance by regulating the action potential excitation threshold affected by calcium deficiency.
Calcium gluconate moderates nerve and muscle performance and facilitates normal cardiac function. It can be initially administered intravenously, and calcium levels can be maintained with a high-calcium diet. Some patients require oral calcium supplementation.
Calcium carbonate is used for supplementation of intravenous therapy in hypocalcemia. Calcium moderates nerve and muscle performance by regulating the action potential excitation threshold.
Supplementation increases calcium levels in the serum by improving calcium absorption and retention.
Calcitriol increases calcium levels by promoting calcium absorption in the intestines and retention in kidneys.
Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol. 2008. 626:27-40. [Medline].
Nakamura Y, Matsumoto T, Tamakoshi A, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol. 2000 Jan. 10(1):29-33. [Medline].
Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet. 1993 Feb. 30(2):101-3. [Medline].
Juppner H, Schipani E, Bastepe M, et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A. 1998 Sep 29. 95(20):11798-803. [Medline].
Wu WI, Schwindinger WF, Aparicio LF, Levine MA. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. J Biol Chem. 2001 Jan 5. 276(1):165-71. [Medline].
Bliek J, Verde G, Callaway J, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2009 May. 17(5):611-9. [Medline].
Long DN, McGuire S, Levine MA, et al. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab. 2007 Mar. 92(3):1073-9. [Medline]. [Full Text].
Shalitin S, Davidovits M, Lazar L, et al. Clinical heterogeneity of pseudohypoparathyroidism: from hyper- to hypocalcemia. Horm Res. 2008. 70(3):137-44. [Medline].
Balavoine AS, Ladsous M, Velayoudom FL, et al. Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH. Eur J Endocrinol. 2008 Oct. 159(4):431-7. [Medline].
Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type ib. J Clin Endocrinol Metab. 2007 Sep. 92(9):3738-42. [Medline].
Vlaeminck-Guillem V, D'herbomez M, Pigny P, Fayard A, Bauters C, Decoulx M, et al. Pseudohypoparathyroidism Ia and hypercalcitoninemia. J Clin Endocrinol Metab. 2001 Jul. 86 (7):3091-6. [Medline].
Landreth H, Malow BA, Shoemaker AH. Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. Horm Res Paediatr. 2015. 84 (1):1-5. [Medline].
Mahmud FH, Linglart A, Bastepe M, et al. Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics. 2005 Feb. 115(2):e242-4. [Medline].
Freson K, Izzi B, Labarque V, et al. GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets. J Clin Endocrinol Metab. 2008 Dec. 93(12):4851-9. [Medline].
Todorova-Koteva K, Wood K, Imam S, Jaume JC. Screening for parathyroid hormone resistance in patients with nonphenotypically evident pseudohypoparathyroidism. Endocr Pract. 2012 Nov-Dec. 18(6):864-9. [Medline].
Weinhaeusel A, Thiele S, Hofner M, et al. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. Clin Chem. 2008 Sep. 54(9):1537-45. [Medline].
Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS. Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab. 2012 Sep. 97(9):3025-30. [Medline]. [Full Text].
Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf). 2015 Sep 21. [Medline].
Ritter C, Göbel CH, Liebig T, Kaminksy E, Fink GR, Lehmann HC. An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism. Lancet. 2015 May 2. 385 (9979):1802. [Medline].