Endocrine Abstracts

Of 563 genes involved in multiple processes of development of hypothalamo-pituitary-gonadal (HPG) axis during embryogenesis, mutations in 62 genes cause delayed puberty. We selected 6 of 37 delayed puberty patients for whole exome sequencing (WES) based on advanced age (>18 years) and severity of disease symptoms. Genomic DNA extraction was done using Qiagen kit at Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. DNA samples were taken to ANZAC Researc...