Pediatric Hypoparathyroidism Differential Diagnoses
- Author: Pisit (Duke) Pitukcheewanont, MD; Chief Editor: Stephen Kemp, MD, PhD more...
Roth KS, Ward RJ, Chan JCM, Sarafoglou K. Disorders of calcium, phosphate, and bone metabolism. In: Sarafoglou K. Hoffman GF, Roth KS. Pediatric endocrinology and inborn errors of metabolism. ed. New York, NY: McGraw Hill; 2009:619-64.
Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, et al. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. J Med Genet. May 2005;42(5):443-8. [Medline]. [Full Text].
Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, et al. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J Clin Endocrinol Metab. Sep 2008;93(9):3568-76. [Medline]. [Full Text].
Shiohara M, Shiozawa R, Kurata K, Matsuura H, Arai F, Yasuda T. Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor. Endocr J. Dec 2006;53(6):797-802. [Medline].
Winer KK, Sinaii N, Peterson D, Sainz B Jr, Cutler GB Jr. Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism. J Clin Endocrinol Metab. Sep 2008;93(9):3389-95. [Medline].
Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. Jun 28 1990;322(26):1829-36. [Medline].
Arnold A, Horst SA, Gardella TJ, et al. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest. Oct 1990;86(4):1084-7. [Medline]. [Full Text].
Chattopadhyay N, Mithal A, Brown EM. The calcium-sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism [published erratum appears in Endocr Rev 1996 Oct;17(5):517]. Endocr Rev. Aug 1996;17(4):289-307. [Medline]. [Full Text].
Chinnery PF, Turnbull DM. Mitochondrial medicine. QJM. Nov 1997;90(11):657-67. [Medline]. [Full Text].
Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med. Apr 1 1999;340(13):1012-20. [Medline].
Fischer JA, Egert F, Werder E, Born W. An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. J Clin Endocrinol Metab. Mar 1998;83(3):935-8. [Medline]. [Full Text].
Hasegawa T, Hasegawa Y, Aso T, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet. Dec 31 1997;73(4):416-8. [Medline].
Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A. Dec 22 1998;95(26):15475-80. [Medline]. [Full Text].
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. Sep 29 1998;95(20):11798-803. [Medline]. [Full Text].
Levine MA. Pseudohypoparathyroidism: from bedside to bench and back. J Bone Miner Res. Aug 1999;14(8):1255-60. [Medline].
Nakamoto JM, Sandstrom AT, Brickman AS, et al. Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. Am J Med Genet. May 26 1998;77(4):261-7. [Medline].
Pearce SH, Williamson C, Kifor O, et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med. Oct 10 1996;335(15):1115-22. [Medline].
Perheentupa J. Autoimmune polyendocrinopathy--candidiasis--ectodermal dystrophy (APECED). Horm Metab Res. Jul 1996;28(7):353-6. [Medline].
Pollak MR, Brown EM, Estep HL, et al. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet. Nov 1994;8(3):303-7. [Medline].
Sticht H, Hashemolhosseini S. A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. Med Hypotheses. May 11 2006;[Medline].
Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S. A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. J Clin Endocrinol Metab. Oct 1999;84(10):3792-6. [Medline]. [Full Text].
Yamamoto M, Akatsu T, Nagase T, Ogata E. Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?. J Clin Endocrinol Metab. Dec 2000;85(12):4583-91. [Medline]. [Full Text].

