Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2021) 77 P112 | DOI: 10.1530/endoabs.77.P112

SFEBES2021 Poster Presentations Reproductive Endocrinology (31 abstracts)

What is the prevalence and pattern of cancers in Turner syndrome? A single centre cohort study

Ryan J Goindoo 1 , M D S A Dilrukshi 1 , Fiona Bragg 2 , Matilde Calanchini 1 & Helen Turner 1


1Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, United Kingdom; 2Medical Research Council Population Health Research Unit, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom


Background: Previous population studies suggest cancer morbidity is different in Turner syndrome (TS) compared to the background female population. Whilst gonadoblastoma is well recognized in TS with Y chromosome material, studies have suggested increased prevalence of skin tumours and meningioma but reduced incidence of breast cancer.

Methods: Retrospective analysis of an adult TS clinic patient database identified women who developed cancer. Tumour type, age at onset, mode of presentation and karyotype were collected. McMillan-NCRAS cancer database was used for comparison of prevalence and types of cancer in the background female population; 4.44%, breast, colorectal cancer and melanoma were the most common types of cancer.

Results: Among 156 women with TS, mean age 46.1 (±15.3 years), 9 (5.8%) had a recorded cancer diagnosis. The types of cancer were; bilateral gonadoblastoma (46, XY/45, X karyotype), type 1 gastric neuroendocrine tumour (NET), appendiceal NET, gastrointestinal stromal tumour, POEM syndrome, synovial sarcoma, cervical cancer, medulloblastoma and aplastic anaemia. Mean age at cancer diagnosis was 37.2±18.8years and 4/9 cancers were detected incidentally. Five women had a 45, X karyotype. Three received growth hormone treatment and all except one were on oestrogen replacement therapy.

Conclusions: We confirm the previous observations that women with TS do not appear to be at overall increased risk of common malignancies within the background female population. Our small cohort showed a spectrum of unusual malignancies, which were frequently incidentally detected. The slightly increased prevalence of cancer in our cohort might be related to regular monitoring of these women due to TS per se and selected small sample size. All clinicians managing women with TS should consider the possibility of non-TS related tumours as a differential diagnosis for unexplained symptoms or unexpected radiological abnormalities.

Volume 77

Society for Endocrinology BES 2021

Edinburgh, United Kingdom
08 Nov 2021 - 10 Nov 2021

Society for Endocrinology 

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