Endocrine Abstracts

Introduction: Turner Syndrome (TS) is known to be associated with congenital malformations and a greater incidence of autoimmune disease. Many others organs systems are also affected to varying degrees and at different stages of life such as abnormal liver function. This disease is often detected on routine investigation and is not accompanied by signs or symptoms of liver disease. We report the case of a young Turnerian who presents a disruption of his hepatic balance with a strictly normal etiological investigation.

Case: A 10 years old girl was referred for short stature. Her past medical history was unremarkable. On examination, she had a height of 118 cm (-<3 S.D.). She had a female phenotype with female external genitalia (Tanner stage: stage 1). It presents a universal alopecia. Examination of cardiovascular, respiratory and neurological systems was normal. Hormonal investigations revealed hypergonadotropic hypogonadism with FSH level of 181.4 mIU/ml, LH level of 41 mIU/ml and a estradiol level <9 pg/ml. Pelvic ultrasonography showed a hypoplastic Uterus without visualization of the ovaries. Cytogenetic analysis of peripheral blood revealed a karyotype with 45 chromosome with one X chromosome missing (45, X). And the FISH (fluorescence in situ hybridization) analysis showing hybridization of x chromosome centromere probe to normal X and small ring X chromosome in a 46X,r(X) metaphase. Laboratory investigations revealed normal hematological and biochemical parameters except for Alanine aminotransferase (ALT) (87UI/l>45ui/l) and Alkaline phosphatase (AP) (819ui/l>200ui/l), γ-Glutamyl transferase and serum bilirubin level were normal. Hepatotoxic medications and alcohol was ruled out and we have completed by abdominal ultrasound which showed no hepatic impairment. Viral hepatitis was suspected but the serologies were negative. Otherwise, autoimmune hepatitis was eliminated as the immunological survey showed negative anti-mitochondrial, anti-smooth muscle and anti-LKM1 antibodies. Finally the patient is treated with Ursodeoxycholic acid therapy. The evolution was marked by an improvement in liver function ALT (32ui/l), AST (40ui/l), AP (220 ui/l).

Conclusion: The incidence of biochemical liver abnormalities is frequent and should be investigated in any patient with TS. It appears that this is a benign condition which does not seem to reflect any liver dysfunction. The estrogen-progestin replacement therapy; should not be stopped because of its beneficial effects on the overall quality of life of these patients. Liver involvement in TS patients necessitates appropriate management and follow-up.