Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene

<p dir="ltr">Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor. Genetic defects in the <i>GH1</i> and <i>GHRHR </i>genes account for around 11.1-20% of ESS cases, resulting in a rare condition called isolated GH deficiency (IGHD). We describe the characterization of a <i>GH1 </i>genetic defect discovered in a 3-year-old male patient with ESS, developmental failure and undetectable serum levels of GH. There was a family history of short stature, with both parents being short. Whole genome sequencing of the patient DNA revealed a large, novel 6 kb homozygous deletion spanning the entire <i>GH1</i> gene in the patient. While the deletion was homozygous in the proband, it was present in the heterozygous state in the parents. Thus, we report a novel homozygous deletion including the GH1 gene leading to IGHD-type 1A associated with ESS.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Clinical Research in Pediatric Endocrinology<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-5-9" target="_blank">https://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-5-9</a></p>