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About
Overview
Brien is a PhD student in the School of Health Sciences and Endocrine Nurse. Having previously completed a postgraduate diploma and masters of Nursing at City, University of London and a Bachelor of Science (Hons) from Brunel University London. Brien now focuses his efforts on endocrine related Research and clinical practice. Research and clinical interests include; patients with Klinefelter syndrome, chromosome aneuploidies and reproductive endocrinology.
PhD Topic:
Klinefelter Syndrome (KS) first described by Harry Klinefelter in 1942 is the most common chromosome aneuploidy in men. Clinically characterised by small testes, gonadal, infertility, gynaecomastia and eunuchoid proportions (arm span exceeds height by ≥7 cm) as well as a variety of psychosocial symptoms and comorbidities, including, autism symptoms, depression and anxiety. It affects 1 in 600 men, but 50-75% of men with KS go undiagnosed in their lifetime. The overall impact of a diagnosis of KS is multifaceted, with a high disease burden for both patients and NHS services due to uncontrolled symptoms, lack of timely diagnosis and current management guidelines. The impact of living with KS is profound, resulting in an increased risk of mortality and a significantly impaired QoL
Titled, Quality of life in Adult males with Klinefelter syndrome, Brien's research is looking to understand the lived experiences of patients with Klinefelter syndrome, developing new understanding to how Klinefelter syndrome impacts quality of life. The information gained from upcoming studies, will help guide the development and validation of a new health scale. The novel health scale will be used to accurately measure Health related quality of life in adult males with Klinefelter syndrome. Future research will be conducted to implement this research into clinical practice.
PhD Supervisors:
Prof Steve Gillard
Dr Sofia Llahana
Dr Channa N Jayasena
Qualifications
- MSc Nursing, City, University London, United Kingdom, September 2019 - October 2020
- PgDip Nursing (Adult), City, University London, United Kingdom, September 2016 - December 2018
- BSc (Hons) Sport Science, Brunel University London, United Kingdom, September 2012 - June 2015
- Registered Nurse, Nursing and Midwifery Council, United Kingdom
Employment
- Honorary Clinical Nurse Specialist in Reproductive Endocrinology & Andrology, Imperial College Healthcare NHS Trust, United Kingdom, November 2021 - present
- Staff Nurse, Royal Free Hospital, United Kingdom, February 2021 - present
- Staff Nurse, University College London Hospital, February 2019 - September 2021
Languages
English (can read, write, speak, understand spoken, peer review)
Research
Title of thesis: Quality Of Life In Adult Patients With Klinefelter Syndrome
February 2021
Summary of research
Klinefelter syndrome is a rare genetic syndrome, affecting around 1 in 400 males, many of which will be diagnosed later in life. There are many symptoms associated with Klinefelter syndrome which can affect psychological health , physical health and social outcomes, this includes a broad spectrum of problems that may be present in the lives of patients with Klinefelter syndrome.
The aims of the research project are to understand how Klinefelter syndrome has an impact on the patients quality of life. The project will follow a mixed methods approach using pre-existing quality of life measures and phenomenological research to answer the initial research questions which will guide the later stages of the project.
From the findings of the initial research, the first condition specific Klinefelter syndrome patient recorded outcome measure (PROM) will be developed with the aim of accurately measuring quality of life in adult patients with Klinefelter syndrome.
Research students
1stsupervisor
- Steve Gillard, Associate Dean Research
2ndsupervisor
- Dr Sofia Llahana, Reader
Publications
Publications by category
Journal articles (5)
- Mehmet, B., Dwyer, A.A., Jayasena, C.N., Gillard, S. and Llahana, S. (2025). Update on Physical, Psychological, and Quality of Life Management in Klinefelter Syndrome. The Journal of Clinical Endocrinology & Metabolism, 110(8), pp. e2435-e2445. doi:10.1210/clinem/dgaf261
- Mehmet, B., Gillard, S., Jayasena, C.N. and Llahana, S. (2022). Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review. European Journal of Endocrinology, 187(2), pp. S21-S34. doi:10.1530/eje-21-1239
- Mehmet, B., McDonald, I.R., Saldarriaga, S., Pineros-Leano, M. and Dwyer, A.A. (2022). What's missing in sex chromosome aneuploidies? Representation and inclusion. Journal of Pediatric Nursing, 62, pp. 202-204. doi:10.1016/j.pedn.2021.11.030
- Mehmet, B. and Llahana, S. (2021). Low intelligent quotient (IQ) in patients with Klinefelter Syndrome are associated with impaired quality of life: A systematic review with meta-analysis. Endocrine Abstracts. doi:10.1530/endoabs.73.aep583
- Mehmet, B. and Llahana, S.V. (2021). Factors Impacting Quality of Life in Patients With Klinefelter Syndrome: A Systematic Review with Narrative Synthesis and Meta-Analysis. Journal of the Endocrine Society, 5(Supplement_1), pp. A758-A758. doi:10.1210/jendso/bvab048.1542