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Endocrine Abstracts (2019) 63 OC14.5 | DOI: 10.1530/endoabs.63.OC14.5

1Aarhus University Hospital, Aarhus, Denmark; 2Aarhus University, Aarhus, Denmark.


Background: Studies have shown that the overall risk of cancer is not increased in Turner syndrome (TS). However, the pattern of cancer occurrence may be different than in the background population.

Aim: To describe the cancer morbidity pattern in TS.

Design: Nationwide epidemiological study using Danish registries on morbidity.

Methods: 1,156 Females with TS diagnosed during 1960–2014 were identified using The Danish Cytogenetic Central Registry. Subsequently they were linked with personal-level data from the Danish National Patient Registry. Statistics Denmark randomly identified 115,578 controls matched on sex and age. Stratified Cox regression were used to analyze cancer morbidity, computing proportional hazard ratios (HR).

Results: The overall risk of cancer was not elevated with a HR of 1.04 (Table 1). We observed an increased risk of skin cancer, but not melanoma. In addition, we also observed an increased risk benign skin neoplasms. We also observed a decreased risk of breast cancer, while all remaining cancer types occurred with a frequency equal to that observed in the background population.

Table 1
All karyotypes
NeoplasmCases n (%) Controls n (%)HR (95%CI)
All cancers677,8761.04 (0.80–1.36)
All benign neoplasms16416,3181.09 (0.91–1.30)
Lip, oral cavity and pharynx cancer31681.69 (0.42–6.84)
Cancer of the digestive tract131,1631.58 (0.89–2.80)
Cancer of respiratory organs48490.63 (0.24–1.70)
Bone cancer0 22NA
Melanoma of the skin46260.67 (0.22–2.09)
Skin cancer126822.23 (1.19–4.17)
Benign skin neoplasm3622312.03 (1.43–2.90)
Malignant mesothelial neoplasms1 29 5.51 (0.73-41.44)
Benign mesothelial neoplasm019NA
Breast cancer1125180.44 (0.22–0.88)
Female genitalia1312991.53 (0.88–2.64)
Uterus cancer78551.25 (0.59–2.64)
Ovarian cancer45451.08 (0.40–2.89)
Urinary tract cancers52531.70 (0.54–5.35)
Malignant CNS tumors22121.12 (0.28–4.52)
Benign CNS tumors74551.48 (0.55–3.97)
Cancers of endocrine glands0139NA

Conclusion: In this large cohort of females with TS, we confirm that cancer is not seen more frequently, but that the pattern of cancer occurrence is different from what is observed in the general population. The risk of breast cancer is lower than in the general population. Whether this is due to insufficient treatment with female sex hormone replacement therapy or specific characteristics of females with TS remains to be determined.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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