GENHYPOPIT Cohort: Genetic Variants in Isolated Growth Hormone Deficiency

Supplementary material from a study analyzing the GENHYPOPIT cohort of 205 patients with isolated growth hormone deficiency (IGHD). The study identified pathogenic variants in 11.2% of patients, describing genotypes and phenotypes from 2017 to 2024. The material was published by figshare admin karger under a CC-BY-4.0 license.

Use Cases

• Analyze the prevalence of pathogenic variants in GH secretion genes based on the reported 70% of variants.
• Investigate genotype-phenotype correlations for pituitary development genes based on the described associations with GLI2 and pituitary stalk interruption syndrome.
• Study inheritance patterns in IGHD based on the reported autosomal dominant and recessive transmissions.
• Identify novel genetic variants based on the report of 10 new pathogenic or likely pathogenic variants.

Strengths

• Focuses on a specific cohort of 205 patients with isolated growth hormone deficiency.
• Reports specific findings, including 23 patients (11.2%) with pathogenic variants and an average diagnosis age of 3.9 years.
• Includes family analyses (n=30) that broadened genotype-phenotype correlations.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is very small (249.6 KB), indicating limited scope.

Provenance

Source

figshare admin karger

Collection Method

Descriptive study of patients referred for targeted NGS panel analysis through the GENHYPOPIT network.

Time Range

2017 to 2024

Freshness

Last updated 2026-04-29 05:55:32; freshness should be verified.