Man, Elim;
(2022)
An Investigation of Multidisciplinary Pathways in Paediatric DSD: Evaluation in Tertiary Centres in the United Kingdom and Hong Kong.
Doctoral thesis (M.D(Res)), UCL (University College London).
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Abstract
Differences/Disorders of Sex Development (DSD) represent a diverse spectrum of conditions that are often present at birth when a baby’s sex cannot be immediately determined based on the appearance of their genitalia. This affects approximately 1 in 4500 newborns, although the exact incidence is unknown. These conditions can present at various other stages of life too. Having a child with potential DSD creates anxiety and considerable uncertainty among families. A multidisciplinary approach to provide early support and guiding investigations to a specific diagnosis and management plan are pivotal to holistic DSD care. The four aims of this work are to: (1) map out the 25- year clinical landscape of DSD referrals and changes over time in Great Ormond Street Hospital, London; (2) evaluate the prevalence of primary adrenal insufficiency (PAI) among 46,XY children and the role of biochemical testing in 46,XY children presenting with atypical genitalia in the newborn period; (3) explore the application of targeted gene panel multiplexed sequencing as an example of state-of-the-art research genetic technology for reaching a molecular diagnosis in DSD; and (4) analyse parents’ experiences of current pathways during the early days, including the source of information, and the psychological consequences of early experiences in Queen Mary Hospital (Hong Kong). In this study, we present clinical, biochemical and genetic data from what is, to our knowledge, the largest single-centre cohort of DSD conditions in newborns, children and young people reported, over a 25-year period. We also describe a collection of early parental experiences from recent DSD families. Our data highlight the range of presentations, associated features and approximate point prevalence of these diverse conditions, as well as the imperative roles of timely clinical assessment, biochemical analysis, genetics and psychosocial support in an integrated DSD care model. This work should help to inform service commissioning going forward and initiate quality improvement exercises that would potentially impact on patients’ outcomes in the long run, as well as other aspects of DSD service improvement.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | M.D(Res) |
| Title: | An Investigation of Multidisciplinary Pathways in Paediatric DSD: Evaluation in Tertiary Centres in the United Kingdom and Hong Kong |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2022. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10158984 |
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