Clinical and genetic characteristics for 4 patients with Type Ib pseudohypoparathyroidism.
10.11817/j.issn.1672-7347.2022.220029
- Author:
Yujun WANG
1
;
Wenjun YANG
2
;
Ping JIN
3
;
Liling ZHAO
2
;
Honghui HE
2
Author Information
1. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. wyj18570756889@163.com.
2. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
3. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. ping.jin06@csu.edu.cn.
- Publication Type:Journal Article
- Keywords:
GNAS gene;
methylation;
methylation-specific multiple ligation-dependent probe amplification;
pseudohypoparathyroidism Type Ib
- MeSH:
Humans;
Chromogranins/genetics*;
GTP-Binding Protein alpha Subunits, Gs/genetics*;
Hypokalemia;
Calcium;
Pseudohypoparathyroidism/genetics*;
Phosphorus
- From:
Journal of Central South University(Medical Sciences)
2022;47(10):1461-1466
- CountryChina
- Language:English
-
Abstract:
Pseudohypoparayhyroidism (PHP) is a rare autosomal dominant or recessive genetic disorder characterized by low calcium, high phosphorus, and target organ resistance to parathyroid. The clinical characteristics and genetic features in 4 patients with Type Ib PHP in the Third Xiangya Hospital, Central South University, have been reviewed. All 4 patients had low calcium, high phosphorus, and parathyroid resistance. Among them, 2 patients had slightly elevated thyroid stimulating hormone and mild features of Albright's hereditary osteodystrophy, and one patient had hypokalemia. No guanine nucleotide-binding protein alpha-stimulating activity polypeptide 1 (GNAS) and gene variant associated with hypokalemia were identified using the whole exome sequencing. The results of the methylation-specific multiple ligation-dependent probe amplification showed that there were abnormal methylation of the upstream differentially methylated regions of GNAS in the 4 patients. There were phenotype overlap among the various subtypes of PHP. Detection of GNAS gene methylation in patients with clinical suspicion of Type Ib PHP is helpful for the diagnosis and treatment of PHP.
