ESPE2023 Top 20 Posters Section (20 abstracts)
Molecular and clinical studies in 84 patients with pseudohypoparathyroidism type 1B.
Tatsuki Urakawa 1,2 , Shinichiro Sano 1,3 , Hiromune Narusawa 1 , Sayaka Kawashima 1,4 , Akie Nakamura 1,5 , Keiko Matsubara 1 , Sumito Dateki 2 , Maki Fukami 1 , Tsutomu Ogata 1,6 & Masayo Kagami 7
1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan. 2Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. 3Department of Endocrinology and Metabolism, Shizuoka Children’s Hospital, Shizuoka, Japan. 4Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan. 5DepartmDepartment of Pediatrics, Hokkaido University Graduate School of Medicineent of Pediatrics, Tohoku University Graduate School of Medicine, Sapporo, Japan. 6Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. 7Tokyo, Setagaya-ku, Japan
Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.
Objective: To clarify the clinical characteristics in each group with different methylation defect patterns in four DMRs on the GNAS locus.
Design: Comprehensive molecular analyses consisting of methylation analysis, copy number analysis, and microsatellite analysis.
Patients and Methods: Eighty-four patients with PHP1B were included in this study. We classified them into three groups, namely, autosomal dominant inheritance-PHP1B (Group 1, G1), sporadic-PHP1B (G2), and atypical-PHP1B (G3), based on the methylation defect patterns in four DMRs on the GNAS locus and conducted epigenotype-phenotype analysis.
Results: G2 had youngest age at the time of diagnosis and highest serum intact PTH levels among the three groups. The most common symptoms at the time of diagnosis were tetany in G1 and G3, and seizures or loss of consciousness in G2. AHO features were most frequently observed in G2. There were no significant correlations between the average methylation ratios of seven CpG sites in the AB-DMR and hormonal and biochemical findings.
Conclusion: Epigenotype-phenotype analysis among PHP1B groups with different etiologies and different methylation defect patterns in four DMRs on the GNAS locus revealed differences in some clinical characteristics, including diagnostic features at onset and AHO features.
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