Endocrine Abstracts

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.