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Endocrine Abstracts (2021) 73 OC4.2 | DOI: 10.1530/endoabs.73.OC4.2


1Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Department of Zoology/Biology, Rawalpindi, Pakistan; 2ANZAC Research Institute (ARI), University of Sydney, Andrology Department, Sydney, New South Wales (NSW), Australia; 3ANZAC Research Institute (ARI), University of Sydney, Neurobiology Laboratory, Sydney, New South Wales (NSW), Australia; 4University of Wah, Department of Zoology, Wah Cantt, Pakistan; 5Military Hospital (MH), Department of Endocrinology, Rawalpindi, Pakistan; 6Shifa International Hospital, , Department of Endocrinology, Islamabad, Pakistan; 7Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan; 8University of Lahore, Islamabad Campus, Institute of Diet and Nutritional Sciences, Islamabad, Pakistan


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 Research Institute (ARI), New South Wales (NSW), Australia for genetic analysis. Each sample was diluted to final concentration of 25 ng/µl DNA and was outsourced to Macrogen Inc., Seoul, South Korea for WES using Illumina HiSeq 2000 platform. Bioinformatics analysis was performed at ARI. Only missense, splice region, frameshift, exon lost, stop gained and stop lost variants expressed along HPG axis having minor allele frequency of < 1% were included. Manual evaluation of BAM files and In Silico analysis of missense variants were performed to assess functional consequences. Selected variants were confirmed by Sanger sequencing at Australian Cancer Research Foundation, Garvan Institute of Medical Research, NSW. We report mutations in 31 genes expressed along HPG axis, 7 already reported confirmed, 6 reported but unconfirmed and 18 novel mutations. Of 53 genes involved in hypothalamic regional territories development, mutation in one confirmed gene was identified. Of 60 genes for GnRH neuron differentiation, mutations in 2 confirmed, 1 reported unconfirmed and 2 new genes were identified. Among 101 genes for GnRH neuron migration, mutations in 4 confirmed, 1 reported unconfirmed and 6 new genes were identified. Of 60 genes for development of GnRH neural connections with supra-hypothalamic neurons, mutations in 3 confirmed, 1 reported unconfirmed and 6 novel genes were identified. Of 24 genes for neuron homeostasis, 2 novel mutations were observed. Among 46 genes coding for molecules regulating GnRH neuron activity, mutations were identified in 2 reported unconfirmed and 4 novel genes. Of 56 genes coding for receptors/proteins on GnRH neurons, mutations in 1 reported unconfirmed and 1 novel gene were observed. Among 21 genes coding for signaling molecules, mutations were identified in 1 reported unconfirmed and 3 novel genes. Of 95 genes for GnRH synthesis, mutations in 1 confirmed and 1 reported unconfirmed gene were observed. Of 31 genes for gonadotropins production/release, mutations in 1 confirmed, 1 reported unconfirmed and 1 novel gene were identified. Of 115 genes for steroid hormone action, mutations were identified in 1 confirmed and 1 new gene.

Volume 73

European Congress of Endocrinology 2021

Online
22 May 2021 - 26 May 2021

European Society of Endocrinology 

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