Endocrine Abstracts

Puberty, a crucial biological process, ends up in sexual maturation, reproductive capability and adult body size. It is controlled by hypothalamo–pituitary–gonadal axis (HPG), where hypothalamus synthesizes and secretes gonadotropin releasing hormone, which stimulates the adenohypophysis to produce follicle stimulating hormone (FSH) and luteinizing hormone (LH). FSH causes formation of sperms and LH stimulates production of testosterone (T). Puberty needs an intact H...

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...