Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants
Authors' conclusion
In this large multicentric international cohort, GLI2 was the most frequently identified genetic cause of syndromic CH with constant association of pituitary stalk interruption syndrome or extrapituitary clinical features. In addition to polydactyly and neurocognitive disorders, cardiac and renal abnormalities were also frequently observed and should be investigated further. The variable expression of GLI2-associated phenotypes justifies further research in this area.
Study context
- Population
- Patients with congenital hypopituitarism screened for GLI2 variants (GENHYPOPIT)
- Participants
- 717 index cases
- Outcome
- GLI2 variants and phenotype
Methodological detailsmulticentric, international, next-generation sequencing panel
- Multicentric
- International
- Next-generation sequencing panel
Main finding
As reported in the abstract
- GLI2 variants identified in index cases
- 39
- Pathogenic and likely pathogenic GLI2 variants
- 17
- Patients with P GLI2 variants (17 index cases, 6 relatives), all with PSIS or extrapituitary manifestations
- 23
- GLI2 variants as the most frequent genetic cause in syndromic hypopituitarism
- 68%
- Truncating variants
- 88% (15/17)
- De novo variants
- 45%
- Hypopituitarism among patients with GLI2 variant
- 21/23, 91%
- Isolated GHD
- 21.7% (5/23)
- Kallmann syndrome
- 2 patients
- Pituitary morphological abnormalities
- 84%
- Neurocognitive disorders
- 38%
- Hexadactyly
- 27%
Observational data: associations, not effects.
Original publication
Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants. Eur J Endocrinol. Published 13 February 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →