Pseudohypoparathyroidism

Pseudohypoparathyroidism
Pseudohypoparathyroidism
Specialty	Endocrinology

Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone.^[1] Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit). Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100,000 population depending on geographic location.^[2]

^ Bastepe M (2008). "The GNAS Locus and Pseudohypoparathyroidism". Genomic Imprinting. Advances in Experimental Medicine and Biology. Vol. 626. pp. 27–40. doi:10.1007/978-0-387-77576-0_3. ISBN 978-0-387-77575-3. PMID 18372789.
^ Ucciferro, Peter; Anastasolpoulou, Catherine (10 August 2020). Pseudohypoparathyroidism. Treasure Island (FL): StatPearls Publishing. PMID 31613489. Retrieved 2 May 2021.

[pmid18372789-1] Bastepe M (2008). "The GNAS Locus and Pseudohypoparathyroidism". Genomic Imprinting. Advances in Experimental Medicine and Biology. Vol. 626. pp. 27–40. doi:10.1007/978-0-387-77576-0_3. ISBN 978-0-387-77575-3. PMID 18372789.

[2] Ucciferro, Peter; Anastasolpoulou, Catherine (10 August 2020). Pseudohypoparathyroidism. Treasure Island (FL): StatPearls Publishing. PMID 31613489. Retrieved 2 May 2021.

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