Searchable abstracts of presentations at key conferences in endocrinology

ea0045s2.1 | Symposia 2 | BSPED2016

One gene to 100,000 genomes – the evolution of genetic testing in endocrine disorders

Dixit Abhijit

Developments in next-generation sequencing technology have revolutionised the landscape of genetic testing for heterogeneous genetic disorders. There is an emerging need for closer cooperation between endocrinologists and clinical geneticists, including the setting up of multidisciplinary clinics. Examples from a range of endocrine disorders and syndromes diagnosed by targeted single gene testing, multigene panel tests and whole exome/genome sequencing techniques will be prese...


A novel inherited epigenetic cause of pseudohypoparathyroidism type 1b

Crabtree Thomas , Dixit Abhijit , Johnson Katie , Chokkalingam Kamal

Pseudohypoparathyroidism type 1b (PHPT1b) is a rare disorder due to resistance to parathyroid hormone (PTH) and subsequent hypocalcaemia, hyperphosphataemia and normal or raised PTH levels. Sufferers usually present in childhood with seizures or tetany due to hypocalcaemia. Typically, PHPT1b is associated with defects on the long-arm of chromosome 20 in the form of uniparental (paternal) disomy of 20q or genetic mutations or sporadic epigenetic changes in GNAS gene. G...

ea0095p41 | Gonadal, DSD and Reproduction 1 | BSPED2023

A retrospective analysis of clinical characteristics, testosterone therapy, and comorbidity screening for klinefelter syndrome: Insights from a UK tertiary centre over the last two decades

Jeevarathnam Dhivyalakshmi , Chandwani Manju , Dixit Abhijit , Sachdev Pooja

The European Academy of Andrology (EAA) recently published consensus guidelines aiming to standardize the care provided to patients with Klinefelter syndrome (KS) across different stages of development. In this retrospective cross-sectional study, we reviewed the clinical care provided to 76 KS patients at Nottingham University Hospitals between 2000 and 2020.Methods: Data regarding age at presentation (n=30 paediatric, adult 46...