ECE2015 Eposter Presentations Reproduction, endocrine disruptors and signalling (92 abstracts)
Klinefelter syndrome: a small sample retrospective analysis
Ana Margarida Balsa 1 , Margarida Bastos 2 , Carolina Moreno 2 , Daniela Guelho 2 , Luís Cardoso 2 , Nuno Vicente 2 , Diana Martins 2 , Diana Oliveira 2 , Márcia Alves 1 , Joana Guimarães 1 & Francisco Carrilho 2
1Serviço de Endocrinologia, Diabetes e Nutrição do Centro Hospitalar do Baixo Vouga, Aveiro, Portugal; 2Serviço de Endocrinologia, Diabetes e Metabolismo do Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Introduction: Klinefelter syndrome (KS) is characterized by the presence of supernumerary X-chromosome and thus a 47,XXY karyotype. This syndrome remains underdiagnosed, with only about 25% of patients being identified, and only 10% during childhood.
Methods: Retrospective analysis of 11 KS patients followed-up in the Endocrinology Department of Coimbra’s Hospital and Universitary Center. The registered data included education and occupation, time and motif of diagnosis, co-morbidities and treatment. Patients were divided in two groups: A – diagnosis at pediatric age, n=8 and B – diagnosis during adulthood, n=3.
Results: The mean age of diagnosis was 34.45±14.2 years (A – 10.5±3.1 years and B – 42.7±14.2). Group A patients were diagnosed during workup of learning disabilities; on the last evaluation five had gynecomastia (62.5%) and two osteopenia (25%), none had carbohydrate metabolism disorder; they started testosterone replacement at the age of puberty; their final height was 170.3±9.8 cm; four group A patients completed highschool and one couldn’t read or write. One group B patient was diagnosed on account of infertility, and two on the workup of hypogonadotropic hypogonadism; on the last evaluation two had gynecomastia (66.7%), two osteopenia (66.7%), one osteoporosis (33.3%), two had psychiatric and behavioural disorders with cognitive impairment (66.7%), and two had diabetes mellitus with difficult metabolic control and proliferative retinopathy; their final height was 177.3±3.8 cm. One group B patient completed highschool and had an occupation; the other two didn’t finish junior high school and were unemployed.
Conclusion: Cognitive impairment was found in 90.9% of patients and was the most frequent comorbidity, with educational and professional impact. Ginecomastia and osteopenia were frequent as well. Timely diagnosis can result in a better care with proper follow-up and regular screening of possible comorbidities.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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