Pseudohypoparathyroidism type

Mantovani, G., Maghnie, M., Weber, G., et al. (2003) Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type la new evidence for imprinting of the Gs alpha gene. J. Clin. Endocrinol. Metab. 88, 4070 074. 

Liu, J., Erlichman, B., and Weinstein, L. S. (2003) The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands implications for thyroid function in pseudohypoparathyroidism types lA and IB. J. Clin. Endocrinol. Metab. 88, 4336-4341. 

Bastepe, M., Frohlich, L. F., Linglart, A., et al. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat. Genet 37, 25-27. 

Testotoxicosis is a form of male precocious puberty. The disorder results from a constitutive activation of the G a protein (reviewed in Chapter 6). This results in LH receptor activation that is analogous to the LH receptor mutant phenotypes. The disorder often presents alongside paradoxical pseudohypoparathyroidism type la (PHP-Ia), a condition that is marked by resistance to hormones acting through cAMP (PTH and TSH) (91). 

Other causes of low serum calcium are less common. Hypoparathyroidism is due most commonly to parathyroid gland destruction during neck surgery (90%), and less commonly is idiopathic. Pseudohypoparathyroidism is biochemically similar to hypoparathyroidism however, these patients have inherited resistance to PTH and elevated concentrations of PTH. The molecular basis for the most common form, pseudohypoparathyroidism type I (Albright s hereditary osteodystrophy), is a reduction in guanine nucleotide regulatory complex. Ns, in the adenylate cyclase complex. 

Inheritance of maternally imprinted gene Pseudohypoparathyroidism type 1A (PHP) AHO and resistance to multiple hormones [97,100,106]... 

Beur SM, Levine MA (2003) Growth hormone deficiency in pseudohypoparathyroidism type la another manifestation of... 

Germain-Lee EL, Ding CL, Deng Z et al (2002) Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type la. Biochem Biophys Res Commun 296 67-72... 

R25. Rodriguez, H. J., Villareal, H., Klahr, S., and Slatopolsk>, E., Pseudohypoparathyroidism Type II Restoration of normal renal responsiveness to parathyroid hormone by calcium administration. /. Clin. Endocrinol. 39, 3-701 (1974). 

Loveridge N, Fischer JA, Nagant de Deuxchaisnes C, et al. (1982) Inhibition of cytochemical bioactivity of parathyroid hormone by plasma in pseudohypoparathyroidism type I. Journal of Clinical Endocrinology and Metabolism 54 1274—1275. 

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