Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review
Authors' conclusion
This study revealed the correlation between loss-of-function RVs with round faces and subcutaneous ossifications in PHP 1a patients. Further exploration of genotype-phenotype correlations through more standardized and prospective studies with long-term follow-up is necessary.
Study context
- Population
- Patients with genetically diagnosed pseudohypoparathyroidism type 1a (PHP1a), articles until May 31, 2021
- Participants
- 527 patients
- Comparison
- Missense and in-frame GNAS rare variants (RVs) vs loss-of-function RVs
- Outcome
- Genotype-phenotype correlations
Pooled result
As reported in the abstract
- GNAS rare variants identified
- 258
- RVs in exon 1
- 17.6%
- RVs in exon 7
- 17.6%
- Frameshift RVs
- 36.8%
- Missense RVs
- 31.3%
- Median age of onset
- 5.0 years
- Elevated PTH
- 86.7%
- Albright's hereditary osteodystrophy (AHO)
- 87.5%
- TSH resistance
- 75.5%
Original publication
Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review. Eur J Endocrinol. Published 14 October 2023. doi:10.
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