BSPED2024 Poster Presentations Gonadal, DSD and Reproduction 2 (7 abstracts)
Standardisation of care for boys with 47,XXY in the west of scotland
Louise Rankin 1 , Angela Lucas-Herald 1 , Ellen Parkinson 1 , Supitcha Patjamontri 1 , Jane McNeilly 2,1 , Emily Fraser 3 , Ruth McGowan 1,4 & S Faisal. Ahmed 1
1Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, United Kingdom; 2Department of Clinical Biochemistry, Queen Elizabeth University Hospital, Glasgow, United Kingdom; 3Paediatric Clinical Psychology Department, Glasgow, United Kingdom; 4Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, United Kingdom
Background: Klinefelter syndrome (KS) is a sex chromosome disorder characterised in males by a 47, XXY genotype. There is a highly varied phenotypic spectrum among affected individuals, which may present challenges with standardisation of care.
Aims: To determine the clinical characteristics of boys with 47, XXY seen at a tertiary paediatric endocrine clinic in the West of Scotland and develop checklists to standardise care.
Methods: A single centre retrospective observational study was undertaken of all known boys with KS seen at the tertiary endocrine clinic. We gathered data identifying various clinical characterstics of KS within our patient cohort as well as details on their current management and involvement of different medical specialists in their care. From this, we generated checklists to aid in the future care of boys with KS.
Results: We identfied 56 male patients with a confirmed diagnosis of KS between 2004-2024. Data were available for 48 (86%) of these boys. Twelve (25%) of the 48 boys were diagnosed prenatally and for the remaining 36 boys, the median age (range) at diagnosis was 4.8 (0, 17) years. Motor delay was present in 15 (31%) and speech delay in 21 (44%). We identified associated neurocognitive and mental health disorders (eg. anxiety, depression, Attention Deficit Hyperactivity Disorder, autism spectrum disorder) in 29 (60%). Of the 32 boys of pubertal/post-pubertal age, 16 (50%) had biochemical evidence of gonadal dysfunction and were subsequently on a form of testosterone replacement therapy, and had been referred for fertility evaluation.
Conclusions: In conclusion, a deeper understanding of the broad phenotypic spectrum of KS is an integral step towards improving standardisation of care in these patients.
Volume 103
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more