Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data
Authors' conclusion
The majority of patients with a heterozygous (likely) pathogenic NPR2 variant have mild features suggestive of skeletal dysplasia. We furthermore show that the majority of NPR2 patients have a significant growth response during the first 2 years of GH treatment.
Study context
- Population
- Children and adolescents with a heterozygous (likely) pathogenic NPR2 variant in the Dutch National Registry of growth hormone (GH) treatment in children18 boys · 9 girls
- Participants
- 27 children
- Outcome
- Phenotype, genotype-phenotype correlation and response to GH
Methodological detailsregistry-based, real-world data
- Registry-based
- Real-world data
Main finding
As reported in the abstract
- Different NPR2 variants
- 18
- Truncating / non-truncating / splice site variants
- 5 / 11 / 2
- Baseline height SDS, median (IQR)
- −2.9 (−3.3 to −2.4)
- Mild features suggestive of skeletal dysplasia (mostly mild disproportion, dysmorphic hand features)
- 89%
- Height SDS, truncating vs non-truncating variant (shorter with truncating)
- −3.3 vs −2.5 SDS, P = .02
- Height SDS, kinase homology domain (KHD) variant vs other domain (shorter with KHD)
- −3.2 SDS vs −2.5 SDS, P < .01
- Median height gain SDS after 2 years GH, prepubertal
- 1.2 (0.8 to 1.4)
- Median height gain SDS after 2 years GH, pubertal
- 0.5 (0.3 to 0.9)
- Near adult height improved
- 5/6 children
Observational data: associations, not effects.
Original publication
Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data. J Clin Endocrinol Metab. Published 27 May 2025. doi:10.
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