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

• Main Authors: Basma Haris (Author), Idris Mohammed (Author), Umm Kulthum Umlai (Author), Diksha Shirodkar (Author), Khalid Hussain (Author)
• Format: Book
• Published: Galenos Yayincilik, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 GH1 and GHRHR genes account for around 11.1-20% of ESS cases, resulting in a rare condition...