Klinefelter Syndrome: Rare or Rarely Diagnosed?

Thursday, 14th November 2019 19:00 hrs (60 mins)

Description

Klinefelter Syndrome is among the most common sex chromosome disorder, affecting 0.5-1 in 1,000 newborn males, but is not often identified until later in life.1 This session endeavours to introduce and raise awareness of Klinefelter Syndrome to facilitate its recognition.

  • Introducing Klinefelter Syndrome
  • Recognition and Diagnosis of Klinefelter Syndrome
  • Patient Journey and Impact of a Delayed Diagnosis

Speakers

Dr Channa Jayasena

Clinical Senior Lecturer

Consultant in Reproductive Endocrinology and Andrology

Imperial College and Hammersmith Hospital, London

Dr Jayasena is a Clinical Senior Lecturer and Consultant in Reproductive Endocrinology and Andrology at Imperial College and Hammersmith Hospital, London. He is qualified in medicine, at Cambridge University, after which he undertook specialist training in Diabetes & Endocrinology in London. He is currently Clinical Lead for Male Infertility / Andrology at Hammersmith Hospital which has developed cutting edge techniques such as seminal reactive oxygen species (ROS) measurement, microsurgical testicular sperm extraction (mTESE) and testicular mapping.

He is also Chief Investigator on an NIHR Health Technology Assessment (HTA) funded project to investigate the Efficacy and Safety of Testosterone Replacement in Men (TestES Consortium). His current research focuses on developing novel diagnostics and therapeutics for men and women with disorders of reproduction.

Dr Jayasena has recently been awarded an NIHR Post-Doctoral Fellowship investigating the metabolic regulation of male infertility. After awarded a Wellcome Trust Clinical Research Training Fellowship and NIHR Clinical Lectureship, he conducted first-to-human studies at Imperial College investigating the clinical effects of novel hypothalamic neuropeptides such as Kisspeptin on the human reproductive axis of men and women.

Dr Richard Quinton

Consultant Endocrinologist

Newcastle upon Tyne Hospitals NHS Foundation Trust

UK

Dr Richard Quinton qualified from Cambridge University in 1988 and completed his postgraduate training in London. He also spent a year in The Netherlands on the exchange programme. He is a consultant physician in the Newcastle Endocrine unit, prior to which he was appointed as a Consultant to NuTH in 1999.

He is a Fellow of the Royal College of Physicians and a Member of the British, European and American Endocrine Societies, and have strong links with several patient support groups. He also holds the post of Senior Lecturer at Newcastle University’s Institute for Genetic Medicine.

Dr Quinton is a very active professional in medical research and has authored some 80 publications, along with a prize-winning doctoral (MD) thesis. Married to a Consultant Radiologist and have three young children, he is very fluent in French and Italian and reasonably coherent in German and Dutch.

REFERENCES

1. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome

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