Version June 2024
| Syndrome | Clinical features | GH | GHBP | IGF-1 | IGFBP-3 | ALS | Treatment | MIM |
| GH receptor mutations (classic Laron syndrome) | Postnatal growth failure, infantile facies, abnormal body composition. Mediterranean or Middle Eastern ancestry is common*. | N or ↑ | ↓ (if mutation affects extracellular domain of the GH receptor) Otherwise N or ↑ | ↓ | ↓ | ↓ | rIGF-1 | 262500 |
| Abnormal GH receptor signal transduction (STAT5b mutation) | Postnatal growth failure, immune dysregulation. | N or ↑ | N | ↓ | ↓ | ↓ | rIGF-1 | 245590 |
| IGF1 gene mutation (partial loss of function) | Marked prenatal growth failure; postnatal growth failure, neurocognitive defects, sensorineural hearing loss. | N or ↑ | N | ↓ | ↑ | N | rIGF-1 | 608747 |
| Defective stabilization of circulating IGF-1 (ALS deficiency) | Mild postnatal growth failure, usually delayed puberty. | N or ↑ | N | ↓ | ↓ | ↓↓ | ? rIGF-1 | 615961 |
| IGF-1 receptor mutation (partial loss of function or tissue-specific defect) | Pre- and postnatal growth failure, delayed bone maturation, variable phenotype. | N or ↑ | N | ↑↑ | N or ↑ | N | ? | 270450 |
GH: growth hormone; GHBP: growth hormone-binding protein; IGF-1: insulin-like growth factor 1; IGFBP-3: insulin-like growth factor-binding protein 3; ALS: acid-labile subunit; MIM: Mendelian Inheritance in Man database (National Institutes of Health); N: normal levels; rIGF-1: recombinant insulin-like growth factor 1 (mecasermin); STAT5b: signal transducer and activator of transcription 5B gene; IGF1: insulin-like growth factor 1 gene.
* This includes a population with Laron syndrome in Ecuador, with Mediterranean (Spanish) ancestry.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
