Analysis of Short Stature Cases Referred for Genetic Evaluation

摘要: Objective To retrospectively analyze the profile of patients who presented with chief complaint short stature to Medical Genetics OPD SGPGIMS, Lucknow, India. Methods records were searched for cases presenting stature, from January 2008 through December 2010. Short was defined as height less than -2 SD mean corresponding age and sex Indian population. The workup done analyzed, following which they placed in one etiological categories stature. Results A total 137 analyzed. number female male 92 45 respectively. evaluation majority included anthropometry, calculation mid-parental height, medical history, routine biochemistry hematology, bone assessment, thyroid function tests, antiendomysial antibody testing, karyotyping other appropriate investigations required. percentages various diagnostic were- skeletal dysplasia (32.1 %), turner syndrome (16.7 endocrine deficiencies (8 genetic syndromes (7.3 chronic diseases (5.8 %). Twenty (15.3 %) grouped idiopathic consisted 9 familial 12 non-familial cases. (14.6 found be incompletely evaluated. Conclusions Skeletal dysplasias accounted Cause remains unidentified 15.3 % these need further especially molecular defects pituitary GH-IGF1 axis. detailed good follow up is