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Endocrine Abstracts (2017) 49 GP138 | DOI: 10.1530/endoabs.49.GP138

ECE2017 Guided Posters Female Reproduction (12 abstracts)

Turner’s syndrome and abnormal liver chemistry: relationship with karyotype in a large dedicated clinic

Matilde Calanchini 1, , Ahmad Moolla 1 , Jeremy W Tomlinson 1 , Jeremy Cobbold 2 , Andrea Fabbri 3 , Ashley Grossman 1 & Helen Turner 1


1Oxford Centre for Diabetes, Endocrinology and Metabolism – Churchill Hospital, University of Oxford, Oxford, UK; 2Department of Hepatology, John Radcliffe Hospital, Oxford, UK; 3Department of Endocrinology, CTO Alesini & S. Eugenio, University of Rome Tor Vergata, Rome, Italy.


Introduction: Abnormal liver function tests (↑LFTs) are frequently observed in Turner’s syndrome (TS), although the aetiology is unclear. Obesity is reported as one of the causes; recently an increased prevalence of elevated GGT was found in TS patients with a ring X karyotype.

Aim: To analyse the association between abnormal LFTs and TS-related conditions, and in particular their relationship with the different TS-karyotypes.

Methods: Data on adult TS-patients were collected. ↑LFTs was defined as elevated aminotransferases ± GGT and ALP, for more than 6 months. TS-karyotypes were classified in eight groups.

Results: 109 TS women were studied: mean age 36(±13.1)y, BMI 28.3(±6.9)Kg/m2. 45,X was found in 47 patients (46.1%), mosaicism 45,X/46,XX or 45,X/47,XXX in 15 (15.7%), 4 (3.9%) del(X)(p), 1 (1%) del(X)(q), 10 (9.8%) isochromosome(X)(q), 10 (9.8%) ring X, presence of Y in 4 (3.9%) and 10 (9.8%) other TS-karyotypes.

38/109 (35%) presented with ↑LFTs, most frequently a ↑GGT. Differences between the normal-LFTs-group versus the ↑LFTs-group were found for age (33.8 vs 41y, P=0.008), Tot-Chol (4.9 vs 5.5 mmol/L, P=0.005), LDL-Chol (2.7 vs 3.2 mmol/L, P=0.006), and triglycerides (1.1 vs 1.5 mmol/L, P=0.02). No differences were noted analysing anthropometric values, HbA1c, history of diabetes, hypertension or autoimmunity.

The prevalence of ↑LFTs was significantly higher in the isochromosome(X)(q)-group (P=0.0003); the mosaicism-group had a decreased prevalence of ↑LFTs (P=0.0092). Using the stringent ALT cut-off of 19UI/L, this was commoner only in the i(X)(q)-group (P=0.0134). The i(X)(q)-group showed a similar clinical phenotype compared to 45,X and no increased prevalence of autoimmune disease.

Conclusions: This study shows 1) ↑LFTs are common in TS; 2) the prevalence of ↑LFTs increases with age and is associated with increased cholesterol and triglycerides; 3) for the first time, a relationship between ↑LFTs and karyotype was found, suggesting that liver biochemical abnormalities could be triggered by overexpression of Xq genes escaping inactivation.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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