Searchable abstracts of presentations at key conferences in endocrinology

ea0073oc4.2 | Oral Communications 4: Reproductive and Developmental Endocrinology | ECE2021

A molecular analysis of genes involved in disruption of hypothalamo-pituitary-gonadal axis causing delay in onset of male puberty

Akram Maleeha , Handelsman David J. , Kennerson Marina , Rauf Sania , Ahmed Shahid , Ishtiaq Osama , Ismail Muhammad , Mansoor Qaiser , Naseem Afzaal Ahmed , Qayyum Mazhar , Raza Rizvi Marc Y.

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...