Analysis of short stature cases referred for genetic evaluation

To retrospectively analyze the profile of patients who presented with chief complaint of short stature to Medical Genetics OPD of SGPGIMS, Lucknow, India.

Medical Genetics OPD records were searched for cases presenting with short stature, from January 2008 through December 2010. Short stature was defined as height less than -2 SD from mean for the corresponding age and sex for the Indian population. The workup done for the cases was analyzed, following which they were placed in one of the etiological categories of short stature.

A total of 137 cases were analyzed. The number of female and male patients was 92 and 45 respectively. The evaluation done in majority of cases included anthropometry, calculation of mid-parental height, medical history, routine biochemistry and hematology, bone age assessment, thyroid function tests, antiendomysial antibody testing, karyotyping and other appropriate investigations as required. The percentages of cases in the various diagnostic categories were- skeletal dysplasia (32.1 %), turner syndrome (16.7 %), endocrine deficiencies (8 %), genetic syndromes (7.3 %), chronic diseases (5.8 %). Twenty one (15.3 %) cases grouped as idiopathic short stature consisted of 9 familial and 12 non-familial cases. Twenty (14.6 %) cases were found to be incompletely evaluated.

Skeletal dysplasias and turner syndrome accounted for majority of cases of short stature. Cause remains unidentified in 15.3 % cases and these idiopathic cases need further workup especially for the molecular defects in the pituitary GH-IGF1 axis. A detailed evaluation and good follow up of cases of short stature is required.