Searchable abstracts of presentations at key conferences in endocrinology

ea0073ep182 | Reproductive and Developmental Endocrinology | ECE2021

Anthropometric parameters vary slightly but sexual maturation rating and bone age delay and reproductive hormones reduce significantly in patients with delayed puberty

Akram Maleeha , Syed Shakeel Raza Rizvi , Ahmed Shahid , Ishtiaq Osama , Niazi Rauf , Ahmed Naseem Afzaal , Qayyum Mazhar

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...

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...