Endocrine Abstracts

Turner's syndrome (TS) is the commonest sex chromosome abnormality in females. It is associated with impaired glucose tolerance and hepatic dysfunction. However a medline search for primary biliary cirrhosis (PBC) and TS shows only one previously reported case (Spanish literature).

A 36 year old patient was referred to the diabetes center with poorly controlled type 2 diabetes on gliclazide 80 mgs daily (HbA1C 11.2%) and elevated alkaline phosphatase (AKP) at 920 IU/L (72- 300). She had been diagnosed with TS aged 14yrs, received growth hormone treatment for 3 months and had never received hormone replacement therapy (HRT). Alcohol intake was 10 units per week.

Her HBA1C improved to 6.7% on gliclazide 160 mgs twice daily and metformin 500mgs daily but her liver function test (LFT) remained deranged. Hepatic ultrasonography revealed fatty changes and early cirrhosis. Hepatitis serology was negative.Although antimitochondrial antibody was negative, liver biopsy confirmed PBC (stage 1) with granulomatous inflammation and ductopaenia. She had osteoporosis with a T score of minus 3.23 at the spine and minus 1.99 at the femoral neck. Cardiac magnetic resonance imaging was normal.

With ursodeoxycholic acid her AKP dropped to 333IU/l. LFT has remained stable after commencing HRT.

Our patient, who we believe is the first reported case in the United Kingdom of TS, type 2 diabetes and PBC, highlights the fact that women with TS have multiple medical and psychological issues that need regular specialist, often multidisciplinary surveillance. Amongst other modalities LFT need periodic monitoring and a liver biopsy should be considered when no apparent cause is found for biochemically evident liver dysfunction.We report an uncommon association with TS . It is a reminder that one needs to remain vigilant about unexpected findings in aptients. Through investigations should be undertaken for unexplainedabnormal findings. The case will also present details of hepatic dysfunctions reported in TS and effect of HRT on on hepatic function in TS