Open AccessGrowth hormone insensitivity syndrome: A sensitive approach
Author(s) -
Soumik Goswami,
Sujoy Ghosh,
Subhankar Chowdhury
Publication year - 2012
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.100636
Subject(s) - growth hormone , short stature , medicine , hormone , phenotype , bioinformatics , hormone receptor , mutation , gene , genetics , biology , cancer , breast cancer
Patients with Growth Hormone Insensitivity have characteristic phenotypic features and severe short stature. The underlying basis are mutations in the growth hormone receptor gene which gives rise to a characteristic hormonal profile. Although a scoring system has been devised for the diagnosis of this disorder, it has not been indisputably validated. The massive expense incurred in the diagnosis and treatment of this condition with suboptimal therapeutic response necessitates a judicious approach in this regard in our country.