Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes
Journal of Clinical Endocrinology and Metabolism Jun 23, 2021
Andrews A, Maharaj A, Cottrell E, et al. - This study was undertaken to explore genetic characterization of short stature patients referred with suspected growth hormone insensitivity (GHI) and features which overlapped with known GH-IGF-I axis defects. The center received 149 GHI referrals for genetic testing between 2008 and 2020. Researchers present a 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. There is a need for detailed clinical and genetic assessment to distinguish a diagnosis and inform clinical management.
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