Turner Syndrome Clinical Trial
Official title:
Quantitative Liver Functions in Turner Syndrome With and Without Hormone Replacement Therapy
Several studies have demonstrated that Turner Syndrome patients have elevated liver enzymes readily suppressible by a short course of HRT. We wanted to estimated quantitative liver functions in a young group of Turner syndrome patients compared to a healthy control group.
Turner syndrome is due to the absence of a part of or the entire X chromosome in females.
Stature is short, and morbidity is increased due to risk of osteoporosis and fractures, type
2 diabetes, ischemic heart disease, hypertension, and stroke, but also the risk of cirrhosis
is increased. Clinical studies have shown a frequent occurrence of elevated liver enzymes,
primarily alanine aminotransferase, g-glutamyl-transferase, and alkaline phosphatase, while
bilirubin is normal.
We and others have shown a normalizing effect of hormone replacement therapy (HRT),
containing 17bestradiol and a gestagen, on liver enzymes, which may point towards a
protective effect on hepatocyte integrity. Marked architectural changes, including nodular
regenerative hyperplasia, multiple focal nodular hyperplasia and cirrhosis are observed in
some patients and are associated with a risk of liver-related complications. These changes
are frequently associated with vascular disorders such as obliterative portal venopathy,
probably related to congenitally abnormal vessels. Steatosis, steatofibrosis, and
steatohepatitis are seen and may be caused by metabolic disorders. In addition, bile duct
alterations resembling small duct sclerosing cholangitis are observed in several patients.
Presently, it is not known whether these perturbations in liver morphology and in
liver-derived enzymes are related to functional defects in females with TS and whether this
may change by HRT. To further explore quantitative liver function in TS, we examined adult
women with TS on and off HRT and compared them with a control group of age matched normal
women. We used the galactose elimination capacity to assess hepatocyte cytosol activity, the
plasma clearance of indocyanine green to assess hepatic blood flow and excretory liver cell
function independently of hepatic blood flow, the antipyrine plasma clearance to estimate
hepatic microsomal system activity, and the functional hepatic nitrogen clearance to assess
mitochondrial- cytosolic metabolic capacity for conversion of amino-nitrogen.We assumed that
one or more these metabolic liver functions would be diminished in untreated TS and
normalized by HRT. Our principal objective was to understand mechanistically how HRT
improves liver function in TS.
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Allocation: Randomized, Intervention Model: Crossover Assignment, Masking: Open Label, Primary Purpose: Treatment
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