(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B
Authors' conclusion
This study revealed the differences in some clinical characteristics, particularly clinical features, and ages at the time of diagnosis between G2 and other groups and detailed NDs observed in some patients with PHP1B.
Study context
- Population
- Patients with pseudohypoparathyroidism type 1B (PHP1B), classified by methylation defect patterns in 4 GNAS DMRs and etiologies
- Participants
- 84 patients
- Comparison
- Clinical characteristics among 5 PHP1B groups
- Outcome
- Clinical characteristics at diagnosis by group
- Follow-up
- At diagnosis
Methodological detailscomprehensive molecular analyses (methylation, copy number, microsatellite)
- Comprehensive molecular analyses (methylation, copy number, microsatellite)
Main finding
As reported in the abstract
- G2 had the youngest age and the highest serum intact PTH among the 5 groups at diagnosis
- Most common symptom at diagnosis: tetany in G1; seizures or loss of consciousness in G2
- Albright's hereditary osteodystrophy and PHP-suggestive features most frequent in the G2 proband
Further findings
Neurodevelopmental disorders (mild to borderline intellectual disability and/or developmental delay)
- Patients with neurodevelopmental disorders
- 9
Correlation of average methylation ratios of 7 CpG sites in GNAS-A/B:TSS-DMR with hormonal and biochemical findings
- No significant correlations
Original publication
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B. Eur J Endocrinol. Published 1 December 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →