Subscribe to RSS
A Case of Sporadic Pseudohypoparathyroidism Type 1B Presented with HypokalemiaFunding National Natural Science Foundation of China (81670730, 81100583) and Research Project of Hunan Health Committee (202103061081).
Luo et al.  reported two cases of autosomal dominant pseudohypoparathyroidism type 1B (AD-PHP1B) and reviewed literature about the genetic and epigenetic characteristics of AD-PHP1B. Pseudohypoparathyroidism (PHP) is a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). PHP1B almost results from methylation abnormalities of the maternal differentially methylated regions (DMRs) and can be divided into sporadic PHP1B and AD-PHP1B . As mentioned in this article , AD-PHP1B is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss of methylation at the A/B DMR alone or at all maternally methylated GNAS exons. While sporadic PHP1B remains unclear at the molecular level, except for approximately 10% of the patients caused by paternal uniparental isodisomy or heterodisomy involving chromosome 20q (patUPD20q) . Here, we would like to present a rare case of sporadic PHP1B occurring in association with hypokalemia.
Article published online:
29 July 2021
© 2021. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
- 1 Luo D, Qi X, Liu L. et al. Genetic and epigenetic characteristics of autosomal dominant pseudohypoparathyroidism type 1B: case reports and literature review. Horm Metab Res 2021; 53: 225-234
- 2 Dixit A, Chandler KE, Lever M. et al. Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. J Clin Endocrinol Metab 2013; 98: E103-E108
- 3 Gao F, Liang H, Lu H. et al. Global analysis of DNA methylation in hepatocellular carcinoma by a liquid hybridization capture-based bisulfite sequencing approach. Clin Epigenetics 2015; 7: 86
- 4 Iba K, Morii H, Wada M. et al. A case report of pseudohypoparathyroidism (Drezner's type I) associated with probable Bartter's syndrome. Endocrinol Jpn 1981; 28: 595-604
- 5 Li YC, Kong J, Wei M. et al. 1,25-Dihydroxyvitamin D(3) is a negative endocrine regulator of the renin-angiotensin system. J Clin Invest 2002; 110: 229-238