There is a need to recognize growth hormone insensitivity (GHI) as a spectrum of clinical entities in undiagnosed short stature patients, according to a paper published in The Journal of Clinical Endocrinology and Metabolism. Researchers based their observation on the wide range of diagnoses in 149 patients referred with suspected GHI between 2008 and 2020. They conducted a genetic analysis utilizing a combination of candidate gene sequencing (CGS), whole exome sequencing (WES), array comparative genomic hybridization (aCGH), and a targeted whole genome short stature gene panel. Genetic diagnoses were identified in 80 subjects (54%) with 45 of them (56%) having known GH-IGF-I axis defects. The remaining 35 (44%) had diagnoses of 3M syndrome (OBSL1, CUL7, and CCDC8), Noonan syndrome (PTPN11, SOS1, and SOS2), Silver-Russell syndrome (loss of methylation on chromosome 11p15 and uniparental disomy for chromosome 7), Class 3-5 copy number variations and disorders not previously associated with GHI (Barth syndrome, autoimmune lymphoproliferative syndrome, microcephalic osteodysplastic primordial dwarfism type II, achondroplasia, glycogen storage disease type IXb, lysinuric protein intolerance, multiminicore disease, MACS syndrome, and Bloom syndrome). Detailed clinical and genetic assessment may identify a diagnosis and inform clinicians, the study’s authors wrote.