Poster Presentation ESA-SRB-ANZBMS 2024 in conjunction with ENSA

Presenting features of Klinefelter syndrome in a tertiary referral cohort (#544)

Jinghang Luo 1 2 , Stella Sarlos 1 2 3 , Rinky Giri 1 2 , Ie-Wen Sim 1 2 , Rob I McLachlan 1 2 , Carolyn Allan 1 2 3 , Rita Upreti 1 2 4
  1. Hudson Institute of Medical Research, Melbourne, VIC, Australia
  2. Endocrinology and Diabetes, Monash Health, Melbourne, VIC, Australia
  3. School of Clinical Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia
  4. Endocrinology and Diabetes, Western Health, Melbourne, VIC, Australia

Background Klinefelter syndrome, the most common chromosomal disorder in men, remains underdiagnosed in many of those affected due to its phenotypic variability. Only 26-40% of Australian men are diagnosed during their lifetime(1), though the associated morbidity and mortality results in a 2-6 year reduction in lifespan(2).

 

Methods and Aim: Adult patients with Klinefelter syndrome attending a Clinical Andrology Service in a tertiary Australian institution since 1 January 2011 were invited to contribute to a REDCap database with longitudinal follow-up (3). Within this framework, we aimed to study the clinical features at presentation, and whether these had changed in the past 10 years..

 

Results: Recruitment has resulted in 59 of 96 eligible patients participating thus far (Figure 1). The median age at diagnosis was 28 years with the most common karyotype being 47,XXY (74%). Infertility (42%) and hypogonadism (31%) were the most common reasons for diagnosis, with most patients being diagnosed between the ages of 18 to 35 years (63%). Younger adults had a more varied presentation including gynaecomastia, cognitive/psychological concerns and osteoporosis, or a combination thereof whereas adults diagnosed after 35 years of age almost exclusively presented with infertility, hypogonadism and/or reduced testicular volume (Table 1). Trends in diagnosis do not appear to have changed in the past 10 years (Table 2).

 

Conclusions: Klinefelter syndrome diagnosis continues to be delayed until adulthood in many men, with presentations most commonly involving infertility and/or hypogonadism, Our cross-sectional study suggests that diagnostic trends have not changed in adult men in the past 10 years. As prenatal diagnoses become increasingly frequent (3), appropriate care pathways should be established to optimise the management of paediatric and adult males with Klinefelter syndrome.

 

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  1. 1. Herlihy AS, Halliday JL, Cock ML, McLachlan RI. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust. 2011;194(1):24-28. doi:10.5694/j.1326-5377.2011.tb04141.x
  2. 2. Zitzmann M, Aksglaede L, Corona G, et al. European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology. Andrology. 2021; 9: 145–167. https://doi.org/10.1111/andr.12909
  3. 3. PA Harris, R Taylor, BL Minor, V Elliott, M Fernandez, L O’Neal, L McLeod, G Delacqua, F Delacqua, J Kirby, SN Duda, REDCap Consortium, The REDCap consortium: Building an international community of software partners, J Biomed Inform. 2019 May 9. doi: 10.1016/j.jbi.2019.103208
  4. 4. Loughry L, Pynaker C, White M, Halliday J, Hui L. State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions. Prenat Diagn. 2023 Feb;43(2):156-161. doi: 10.1002/pd.6103. Epub 2022 Jan 27. PMID: 35048400; PMCID: PMC11251400.