Endocrine Abstracts

Introduction: Elevated liver function tests (↑LFTs) are frequent in Turner’s syndrome (TS), with a prevalence between 20 and 80%, and increases with age. Their pathogenesis and clinical significance is unclear.

Objectives: To study the prevalence of ↑LFTs and their relationship with karyotype, anthropometric, metabolic and TS-related conditions: 68 TS women, average age 39 years (range 18–61 years), were reviewed.

Results: Twenty six women (38%) had one or more liver enzymes persistently raised (duration 5.6 years±3.8 S.D.), with the most frequently elevated enzyme being GGT in 92% of cases, and ALT, ALP and AST in 77, 69 and 38%, respectively. Hepatitis serology and autoimmune-markers were negative, bilirubin was normal and no reported alcohol consumption in all. In the normal-LFTs-group no past history of ↑LFTs was noted.

There was no association between ↑LFTs and anthropometric values (height/weight/BMI), diabetes, HbA1c, renal or cardiac malformations, and either GH or oestrogen therapy. The prevalence of spontaneous menstruation was higher in the normal-LFTs-group. Age was significantly higher in the ↑LFTs-group (42.5 year±13.1 S.D. vs 34.9 year±12.4 S.D., P=0.01). 48% of patients with ↑LFTs had a karyotype 45,X0 vs 32.5% in the normal-LFs-group. The frequency of hypertension, dyslipidaemia and thyroid autoimmunity was higher in the ↑LFTs-group (35% vs 14%, 23% vs 7% and 27% vs 17%, respectively).

Abdominal-ultrasonography was normal in ten cases, suggestive of NAFLD (non-alcoholic-fatty-liver-disease) in four and in one showed nodularity and hepatosplenomegaly. Two patients had a normal Fibroscan and one a normal MRCP. Liver biopsy was performed in three patients: one normal, one NAFLD and one showed chronic hepatitis.

Conclusions: This study confirms that the prevalence of ↑LFTs increases with age, that an adequate oestrogen milieu may be protective, and HRT does not need to be discontinued in the presence of ↑LFTs. It suggests that ↑LFTs may be commoner in TS patients with 45,X0, and/or hypertension, hyperlipidaemia and autoimmunity.