Health Condition 1: E343- Short stature due to endocrine disorder
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: All the Children and Adolescents of 1 to 18 years with Severe short stature (height SDS less than -3SDS) of mean height for their specific age and sex.
Exclusion criteria
Exclusion criteria: Disproportionate short stature. Skeletal dysplasia, kyphoscoliosis & other skeletal deformities. Chronic systemic illness(CKD). Short stature due to nutritional/environmental/perinatal causes. Constitutional delay in growth and puberty.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To identify the genetic variants of severe short stature children and adolescents by whole exome sequencing. To assess the various predictors of growth hormone therapy response.Timepoint: To identify the genetic variants of severe short stature children and adolescents by whole exome sequencing. To assess the various predictors of growth hormone therapy response at 3 months, 6 months,1 year. | — |
Secondary
| Measure | Time frame |
|---|---|
| To assess the genotype phenotype correlation. To determine the children at risk for evolving other Pituitary hormone deficiencies. To elicit the novel mutations.Timepoint: 2 years | — |
Countries
India
Contacts
Madurai Medical college