Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Afiya Andrews Avinaash V Maharaj Emily CottrellSumana ChatterjeePrateek ShanmuganandaLouise DenvirKatja DumicArtur BossowskiTalat MushtaqRade VukovicMohamed DidiNick ShawLouise A MetherellMartin O. Savage Helen L Storr

Published in: The Journal of clinical endocrinology and metabolism (2021)

We report the wide range of diagnoses in 149 patients referred with suspected GHI, which emphasizes the need to recognize GHI as a spectrum of clinical entities in undiagnosed short stature patients. Detailed clinical and genetic assessment may identify a diagnosis and inform clinical management.

Keyphrases

end stage renal disease
growth hormone
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
gene expression
pulmonary embolism
clinical evaluation